版本
5.0
创建日期
2005-11-16 15:48:42 UTC
更新日期
2020-11-09 23:13:12 UTC
登录号
HMDB0000289
地位
quantified
二级访问
HMDB00289

名称
Uric acid
描述
Uric acid is a heterocyclic purine derivative that is the final oxidation product of purine metabolism. It is a weak acid distributed throughout the extracellular fluid as sodium urate. Uric acid is produced by the enzyme xanthine oxidase, which oxidizes oxypurines such as xanthine into uric acid. In most mammals, except humans and higher primates, the enzyme uricase further oxidizes uric acid to allantoin. Interestingly, during the Miocene epoch (~15-20 million years ago), two distinct mutations in the primate genome occurred that led to a nonfunctioning uricase gene. Consequently, humans, apes, and certain New World monkeys have much higher uric acid levels (>120 μM) compared with other mammals (<<120 uM). The loss of uricase in higher primates parallels the similar loss of the ability to synthesize ascorbic acid vitamin C. This may be because in higher primates uric acid partially replaces ascorbic acid. Like ascorbic acid, uric acid is an antioxidant. In fact, in primates, uric acid is the major antioxidant in serum and is thought to be a major factor in lengthening life-span and decreasing age-specific cancer rates in humans and other primates (PMID: 6947260). Uric acid is also the end product of nitrogen metabolism in birds and reptiles. In these animal species, it is excreted in feces as a dry mass. In humans and other mammals, the amount of urate in the blood depends on the dietary intake of purines, the level of endogenous urate biosynthesis, and the rate of urate excretion. Several kidney urate transporters are involved in the regulation of plasma urate levels. These include the urate transporter 1 (URAT1), which controls the reabsorption of urate as well as a number of organic ion transporters (OAT), such as OAT1 and OAT3, and the ATP-dependent urate export transporter MRP4. URAT1 is believed to be most critical in the regulation of plasma urate levels. (PMID: 17890445) High levels of plasma uric acid lead to a condition called hyperuricemia while low levels are associated with a condition called hypouricemia. Hyperuricemia has been defined as a uric acid concentration greater than 380 μM, while hypouricemia is generally defined as a urate concentration of less than 120 μM. Hyperuricemia can arise from a number of factors, including both acute and chronic causes. Acute causes of hyperuricemia include the intake of large amounts of alcohol, tumor lysis syndrome and a diet that is rich in purines or proteins. Chronic hyperuricemia can arise from a reduction in the kidney’s glomerular filtration rate, a decrease in the excretion of urate or an increase in overall tubular absorption in the kidneys. Hyperuricemia has been linked to a number of diseases and conditions, including gout, hypertension, cardiovascular disease, myocardial infarction, stroke, and renal disease. Uric acid has been identified as a uremic toxin according to the European Uremic Toxin Working Group (PMID: 22626821). Many of the causes of hyperuricemia are correctable either with lifestyle changes or drugs. Lifestyle changes include reducing weight and reducing the consumption of protein, purines, and alcohol. There are two kinds of drugs that can be used to treat chronic hyperuricemia. Xanthine oxidase inhibitors, such as allopurinol, inhibit the production of urate by blocking urate synthesis. Alternately, uricosuric drugs, such as probenecid, sulfinpyrazone, and benzpromarone, are used to reduce the serum urate concentration through the inhibition of the URAT1 transporter. (PMID: 17890445). Uric acid (especially crystalline uric acid) is also thought to be an essential initiator and amplifier of allergic inflammation for asthma and peanut allergies (PMID: 21474346). 
同义词
1:2,6,8-Trioxopurine

2:2,6,8-Trioxypurine

3:Purine-2,6,8(1H,3H,9H)-trione

4:Urate

5:1H-Purine-2,6,8-triol

6:2,6,8-Trihydroxypurine

7:Lithate

8:Lithic acid

9:Acid urate, ammonium

10:Ammonium acid urate

11:Monohydrate, sodium urate

12:Urate, ammonium acid

13:Urate, monosodium

14:Acid, uric

15:Monosodium urate monohydrate

16:Sodium acid urate

17:Sodium urate

18:Trioxopurine

19:Urate, sodium acid

20:Monohydrate, monosodium urate

21:Monosodium urate

22:Potassium urate

23:Sodium acid urate monohydrate

24:Urate monohydrate, sodium

25:Acid urate, sodium

26:Sodium urate monohydrate

27:Urate monohydrate, monosodium

28:Urate, potassium

29:Urate, sodium

化学式
C5H4N4O3
平均分子量
168.1103
等位分子量
168.028340014
化学名称
2,3,6,7,8,9-hexahydro-1H-purine-2,6,8-trione
传统名称
uric acid
CAS 登记号
69-93-2
代谢物结构字符串
O=C1NC2=C(N1)C(=O)NC(=O)N2
inchi标识符
InChI=1S/C5H4N4O3/c10-3-1-2(7-4(11)6-1)8-5(12)9-3/h(H4,6,7,8,9,10,11,12)
印记键
LEHOTFFKMJEONL-UHFFFAOYSA-N
分类学
description: belongs to the class of organic compounds known as xanthines. These are purine derivatives with a ketone group conjugated at carbons 2 and 6 of the purine moiety.

description:Xanthines

kingdom:Organic compounds

super_class:Organoheterocyclic compounds

class:Imidazopyrimidines

sub_class:Purines and purine derivatives

molecular_framework:Aromatic heteropolycyclic compounds

1:6-oxopurines

2:Alkaloids and derivatives

3:Azacyclic compounds

4:Heteroaromatic compounds

5:Hydrocarbon derivatives

6:Imidazoles

7:Lactams

8:Organic oxides

9:Organonitrogen compounds

10:Organooxygen compounds

11:Organopnictogen compounds

12:Pyrimidones

13:Ureas

14:Vinylogous amides

15:6-oxopurine

16:Alkaloid or derivatives

17:Aromatic heteropolycyclic compound

18:Azacycle

19:Azole

20:Heteroaromatic compound

21:Hydrocarbon derivative

22:Imidazole

23:Lactam

24:Organic nitrogen compound

25:Organic oxide

26:Organic oxygen compound

27:Organonitrogen compound

28:Organooxygen compound

29:Organopnictogen compound

30:Purinone

31:Pyrimidine

32:Pyrimidone

33:Urea

34:Vinylogous amide

35:Xanthine

36:uric acid

本体论
term:Physiological effect

definition:The effect on an organism physiology, resulting from its exposure to a chemical.

parent_id:

level:1

type:parent

term:Health effect

definition:A health condition or observation associated with a stimuli or with a biological activity of a chemical.

parent_id:7693

*level:2

type:parent

term:Observation

definition:A short term health effect which reflects the reponse of the body to stimuli or is a symptom of a disease or condition; also includes health status which reflects stage in life.

parent_id:7694

**level:3

type:parent

term:Bleeding

definition:

parent_id:7717

***level:4

type:child

term:Investigations

definition:The act or process of a systematic and thorough examination; research, study; the process of inquiring into or following up, intended to develop facts. (nci).

parent_id:7717

***level:4

type:parent

term:Health condition

definition:A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.

parent_id:7694

**level:3

type:parent

term:Diabetes mellitus type 2

definition:

parent_id:7695

***level:4

type:child

synonym:Non-insulin-dependent diabetes mellitus

synonym:Niddm

synonym:Adult-onset diabetes

term:Degenerative disc disease

definition:A bone deterioration disease that has material basis in gradual dehydration and tears located in intervertebral disc. (do).

parent_id:7695

***level:4

type:child

synonym:Ddd

term:Schizophrenia

definition:A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. (do).

parent_id:7695

***level:4

type:child

term:Cachexia

definition:

parent_id:7695

***level:4

type:child

term:Bacterial meningitis

definition:

parent_id:7695

***level:4

type:child

term:Lesch-nyhan syndrome

definition:

parent_id:7695

***level:4

type:child

synonym:Lns

synonym:Kelley-seegmiller syndrome

synonym:Nyhan's syndrome

synonym:Hypoxanthin guanine phosphoribosyl transferase

term:Multiple sclerosis

definition:A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (do).

parent_id:7695

***level:4

type:child

synonym:Encephalomyelitis disseminata

synonym:Disseminated sclerosis

synonym:Ms

term:Impaired glucose tolerance

definition:

parent_id:7695

***level:4

type:child

synonym:Igt

term:Coma

definition:A state of profound unconsciousness associated with markedly depressed cerebral activity. Causes include central nervous system damage, intoxication, and metabolic abnormalities.

parent_id:7695

***level:4

type:child

term:Aciduria

definition:A disorder characterized by laboratory test results that indicate high levels of acids in the urine.

parent_id:7695

***level:4

type:child

term:Xanthinuria

definition:A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (do).

parent_id:7695

***level:4

type:child

synonym:Xanthinuria

synonym:Xanthine dehydrogenase deficiency

synonym:Xdh deficiency

synonym:Xanthine oxidase deficiency

term:Psychosis

definition:A mental disorder characterized by personality change, impaired functioning, and loss of touch with reality. (NCI)

parent_id:7695

***level:4

type:child

term:Uremia

definition:A disorder characterized by accummulation of solutes in the blood of people with chronic kidney disease. (do).

parent_id:7695

***level:4

type:child

synonym:Uraemia

term:Nervous system disorders

definition:Any disorder (non-neoplastic or neoplastic) that affects the brain, spinal cord, or peripheral nerves.

parent_id:7695

***level:4

type:parent

term:Vascular disorders

definition:Any disorder that affects the blood vessels.

parent_id:7695

***level:4

type:parent

term:Psychiatric disorders

definition:A group of disorders characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. the symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. (nci).

parent_id:7695

***level:4

type:parent

term:Cardiac disorders

definition:Any disorder that affects the heart.

parent_id:7695

***level:4

type:parent

term:Musculoskeletal and connective tissue disorders

definition:Any disorder (non-neoplastic or neoplastic) that affects muscles, bones and other connective tissue.

parent_id:7695

***level:4

type:parent

term:Gastrointestinal disorders

definition:Any disorder (non-neoplastic or neoplastic) that affects the gastrointestinal tract.

parent_id:7695

***level:4

type:parent

term:Metabolism and nutrition disorders

definition:A group of disorders, inherited or not, that result in a metabolic malfunction.

parent_id:7695

***level:4

type:parent

term:Infections and infestations

definition:Any disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. it can be transmitted by direct or indirect contact. (nci).

parent_id:7695

***level:4

type:parent

term:Disposition

definition:A concept that describes the origin of a chemical, its location within an organism, or its route of exposure.

parent_id:

level:1

type:parent

term:Route of exposure

definition:A mean by which a chemical agent comes in contact with an organism, either under intended or unintended circumstances.

parent_id:7724

*level:2

type:parent

term:Parenteral

definition:Chemical exposure via the a route other than the alimentary canal.

parent_id:7743

**level:3

type:parent

term:Dermal

definition:Chemical exposure by contact with the dermis or a cuticle or cornified region of the epidermis.

parent_id:7745

***level:4

type:child

synonym:Topical

synonym:Skin contact

synonym:Cutaneous (related but nor necessarily exact synonym)

synonym:Transdermal

term:Enteral

definition:Chemical exposure via the alimentary canal (mouth to anus).

parent_id:7743

**level:3

type:parent

term:Ingestion

definition:Chemical exposure facilitated by entry through the mouth.

parent_id:7744

***level:4

type:child

synonym:Digestion

term:Source

definition:Natural or synthetic origin of a chemical.

parent_id:7724

*level:2

type:parent

term:Endogenous

definition:

parent_id:7735

**level:3

type:child

term:Food

definition:

parent_id:7735

**level:3

type:child

term:Biological

definition:A living organism (species or a higher taxonomy rank), in which a chemical can be found.

parent_id:7735

**level:3

type:parent

term:Plant

definition:A living organism belonging to the kingdom plantea. typically, it grows in a permanent site, absorbs water and inorganic substances through its roots, and synthesizes nutrients in its leaves by photosynthesis using the green pigment chlorophyll. examples incude trees, shrubs, herbs, grasses, ferns, and mosses.

parent_id:7736

***level:4

type:parent

synonym:Flora

term:Animal

definition:A living organism belonging to the kingdom animalia. it feeds on organic matter, typically having specialized sense organs and nervous system and able to respond rapidly to stimuli.

parent_id:7736

***level:4

type:child

synonym:Fauna

term:Biological location

definition:The physiological origin within an organism, including anatomical compnents, biofluids and excreta.

parent_id:7724

*level:2

type:parent

term:Organ and components

definition:An anatomical organizational level including multiple tissues or substructures, which enables a common biological function.

parent_id:7725

**level:3

type:parent

term:Intestine

definition:The portion of the gastrointestinal tract that includes the small and large intestines.

parent_id:7727

***level:4

type:child

term:Spleen

definition:An abdominal organ that is part of the hematopoietic and immune systems. it is composed of the white pulp and the red pulp and is surrounded by a capsule. (nci).

parent_id:7727

***level:4

type:child

term:Bladder

definition:The distensible sac-like organ that functions as a reservoir of urine, collecting from the kidneys and eliminating via the urethra. (nci).

parent_id:7727

***level:4

type:child

term:Brain

definition:An organ composed of grey and white matter that is the center for intelligence and reasoning. it is protected by the bony cranium. (nci).

parent_id:7727

***level:4

type:child

term:Liver

definition:An abdominal organ that has variable lobation which are composed mainly of hepatic lobules. (nci).

parent_id:7727

***level:4

type:child

term:Prostate

definition:The male reproductive accessory gland that produces prostatic fluid and is located adjacent to or around the urethra distal to the urinary bladder in mammals. (nci).

parent_id:7727

***level:4

type:child

synonym:Prostate gland

term:Kidney

definition:The organs of the urinary tract located in the retroperitoneal cavity adjacent to the spine and composed of the renal cortex and the renal medulla. (nci).

parent_id:7727

***level:4

type:child

synonym:Kidneys

term:Tissue and substructures

definition:An anatomical organizational level including multiple cells yet not comprising a complete organ .

parent_id:7725

**level:3

type:parent

term:Placenta

definition:An organ present in some vertebrates during embryonic gestation that surrounds the fetus and provides it with nutrients and oxygen, facilitates gas and waste exchange between the fetus and mother, and provides parasitic cloaking from the mother's immune system by excretion of neurokinin b. (nci).

parent_id:7729

***level:4

type:child

term:Epidermis

definition:The epithelial portion of the skin (cutis). it consists of the following layers: stratum corneum (horny layer), stratum granulosum (granular layer), stratum spinosum (prickle cell layer), and stratum basale (basal cell layer). (nci).

parent_id:7729

***level:4

type:child

term:Adipose tissue

definition:A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers. (NCI)

parent_id:7729

***level:4

type:child

synonym:Fat tissue

synonym:Body fat

synonym:Adipose

term:Muscle

definition:A fibrous soft tissue with the ability to contract to produce force and motion. (nci).

parent_id:7729

***level:4

type:child

term:Biofluid and excreta

definition:A liquid, semi-solid or solid material originating in the body.

parent_id:7725

**level:3

type:parent

term:Bile

definition:Fluid composed of waste products, bile acids, salts, cholesterol, and electrolytes. it is secreted by the liver parenchyma and stored in the gallbladder. (nci).

parent_id:7731

***level:4

type:child

term:Urine

definition:Excretion in liquid state processed by the kidney.

parent_id:7731

***level:4

type:child

term:Saliva

definition:The watery fluid in the mouth made by the salivary glands. saliva moistens food to help digestion and it helps protect the mouth against infections. (nci).

parent_id:7731

***level:4

type:child

term:Feces

definition:The material discharged from the bowel during defecation. It consists of undigested food, intestinal mucus, epithelial cells, and bacteria.

parent_id:7731

***level:4

type:child

synonym:Fecal

synonym:Stool

synonym:Faecal

synonym:Faeces

term:Blood

definition:A liquid tissue with the primary function of transporting oxygen and carbon dioxide (nci). it supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection.

parent_id:7731

***level:4

type:child

term:Cerebrospinal fluid

definition:The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord. (nci).

parent_id:7731

***level:4

type:child

synonym:Csf

term:Cell and elements

definition:An anatomical organizational level comprising of a single cell (or a fragment in some exceptions). a cell is defined by its type or function. it is the smallest unit of living structure capable of independent existence, composed of a membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid.

parent_id:7725

**level:3

type:parent

term:Extracellular

definition:The space external to the outermost structure of a cell.

parent_id:7732

***level:4

type:child

synonym:Extracellular region

term:Element

definition:

parent_id:7732

***level:4

type:parent

term:Subcellular

definition:An anatomical organizational level including a component within a biological cell .

parent_id:7725

**level:3

type:parent

term:Peroxisome

definition:A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. (Gene Ontology).

parent_id:7730

***level:4

type:child

synonym:Peroxisome vesicle

synonym:Peroxisomal

term:Process

definition:Biological or chemical events, or a series thereof, leading to a known function or end-product.

parent_id:

level:1

type:parent

term:Naturally occurring process

definition:Naturally-occurring molecular events or a series thereof, leading to a known function or end-product.

parent_id:7659

*level:2

type:parent

term:Biological process

definition:Biological or chemical events or a series thereof, leading to a known function or end-product within an organism.

parent_id:7660

**level:3

type:parent

term:Biochemical pathway

definition:A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.

parent_id:7661

***level:4

type:parent

term:Role

definition:The purpose or function assumed by a chemical, either naturally or as intended by humans .

parent_id:

level:1

type:parent

term:Industrial application

definition:The assumed function of a chemical utilized by human.

parent_id:7671

*level:2

type:parent

term:Pharmaceutical industry

definition:A pharmacologic activity for which a chemical substance is utilized owing to its biological role.

parent_id:7678

**level:3

type:parent

term:Pharmaceutical

definition:

parent_id:7679

***level:4

type:child

term:Biological role

definition:The biological function of a chemical. the biological role answers the question how a chemical is involved in molecular processes in an organism. this can include biochemical effects of non-endogenous chemicals, which are also assigned an industrial application such as pharmaceuticals. the biological role is limited to cellular levls, and will not include role at system process level, such as a chemical which has a role in a disease.

parent_id:7671

*level:2

type:parent

term:Drug metabolite

definition:

parent_id:7672

**level:3

type:child

term:Waste product

definition:A chemical that is generated in a metabolic process and is destined to be excreted from the body. It commonly consists of water, nitrogenous compounds or carbon dioxide and can be a metabolic byproduct or a degradation product (such as urobilin metabolised from bilirubin which is a degradation product of hemoglobin).

parent_id:7672

**level:3

type:child

term:Metabolite

definition:A chemical substance produced during metabolism process, as an intermediate or end-product.

parent_id:7672

**level:3

type:child

状态
Solid
实验性质
1:

kind:water_solubility

value:0.06 mg/mL

source:

2:

kind:logp

value:-2.17

source:NAHUM,A & HORVATH,C (1980)

3:

kind:melting_point

value:> 300 °C

source:

预测性质
1:

kind:logp

value:-1.12

source:ALOGPS

2:

kind:logs

value:-1.98

source:ALOGPS

3:

kind:solubility

value:1.76 g/L

source:ALOGPS

4:

kind:logp

value:-1.5

source:ChemAxon

5:

kind:pka_strongest_acidic

value:7.25

source:ChemAxon

6:

kind:pka_strongest_basic

value:-6.5

source:ChemAxon

7:

kind:iupac

value:2,3,6,7,8,9-hexahydro-1H-purine-2,6,8-trione

source:ChemAxon

8:

kind:average_mass

value:168.1103

source:ChemAxon

9:

kind:mono_mass

value:168.028340014

source:ChemAxon

10:

kind:smiles

value:O=C1NC2=C(N1)C(=O)NC(=O)N2

source:ChemAxon

11:

kind:formula

value:C5H4N4O3

source:ChemAxon

12:

kind:inchi

value:InChI=1S/C5H4N4O3/c10-3-1-2(7-4(11)6-1)8-5(12)9-3/h(H4,6,7,8,9,10,11,12)

source:ChemAxon

13:

kind:inchikey

value:LEHOTFFKMJEONL-UHFFFAOYSA-N

source:ChemAxon

14:

kind:polar_surface_area

value:99.33

source:ChemAxon

15:

kind:refractivity

value:45.63

source:ChemAxon

16:

kind:polarizability

value:13.61

source:ChemAxon

17:

kind:rotatable_bond_count

value:0

source:ChemAxon

18:

kind:acceptor_count

value:3

source:ChemAxon

19:

kind:donor_count

value:4

source:ChemAxon

20:

kind:physiological_charge

value:0

source:ChemAxon

21:

kind:formal_charge

value:0

source:ChemAxon

22:

kind:number_of_rings

value:2

source:ChemAxon

23:

kind:bioavailability

value:Yes

source:ChemAxon

24:

kind:rule_of_five

value:Yes

source:ChemAxon

25:

kind:ghose_filter

value:No

source:ChemAxon

26:

kind:veber_rule

value:No

source:ChemAxon

27:

kind:mddr_like_rule

value:No

source:ChemAxon

1:

type:Specdb::NmrOneD

spectrum_id:5049

2:

type:Specdb::EiMs

spectrum_id:1045

3:

type:Specdb::CMs

spectrum_id:521

4:

type:Specdb::CMs

spectrum_id:1798

5:

type:Specdb::CMs

spectrum_id:1827

6:

type:Specdb::CMs

spectrum_id:3199

7:

type:Specdb::CMs

spectrum_id:30708

8:

type:Specdb::CMs

spectrum_id:31115

9:

type:Specdb::CMs

spectrum_id:31116

10:

type:Specdb::CMs

spectrum_id:31919

11:

type:Specdb::CMs

spectrum_id:137909

12:

type:Specdb::CMs

spectrum_id:145643

13:

type:Specdb::MsMs

spectrum_id:489

14:

type:Specdb::MsMs

spectrum_id:490

15:

type:Specdb::MsMs

spectrum_id:491

16:

type:Specdb::MsMs

spectrum_id:21341

17:

type:Specdb::MsMs

spectrum_id:21342

18:

type:Specdb::MsMs

spectrum_id:21343

19:

type:Specdb::MsMs

spectrum_id:22892

20:

type:Specdb::MsMs

spectrum_id:22893

21:

type:Specdb::MsMs

spectrum_id:22894

22:

type:Specdb::MsMs

spectrum_id:440020

23:

type:Specdb::MsMs

spectrum_id:447345

24:

type:Specdb::MsMs

spectrum_id:2239914

25:

type:Specdb::MsMs

spectrum_id:2241783

26:

type:Specdb::MsMs

spectrum_id:2244113

27:

type:Specdb::MsMs

spectrum_id:2244370

28:

type:Specdb::MsMs

spectrum_id:2245751

29:

type:Specdb::MsMs

spectrum_id:2245995

30:

type:Specdb::MsMs

spectrum_id:2246210

31:

type:Specdb::MsMs

spectrum_id:2247814

32:

type:Specdb::MsMs

spectrum_id:2248059

33:

type:Specdb::MsMs

spectrum_id:2248203

34:

type:Specdb::MsMs

spectrum_id:2250186

35:

type:Specdb::MsMs

spectrum_id:2250226

36:

type:Specdb::MsMs

spectrum_id:2252163

37:

type:Specdb::MsMs

spectrum_id:2308149

光谱
生物学性质
1:

cellular:(1):Extracellular

cellular:(2):Peroxisome

2:

biospecimen:(1):Amniotic Fluid

biospecimen:(2):Bile

biospecimen:(3):Blood

biospecimen:(4):Cerebrospinal Fluid (CSF)

biospecimen:(5):Feces

biospecimen:(6):Saliva

biospecimen:(7):Urine

3:

tissue:(1):Adipose Tissue

tissue:(2):Bladder

tissue:(3):Brain

tissue:(4):Epidermis

tissue:(5):Erythrocyte

tissue:(6):Intestine

tissue:(7):Kidney

tissue:(8):Liver

tissue:(9):Placenta

tissue:(10):Platelet

tissue:(11):Prostate

tissue:(12):Skeletal Muscle

tissue:(13):Spleen

4:

[1]:

name:Adenine phosphoribosyltransferase deficiency (APRT)

smpdb_id:SMP00535

kegg_map_id:

[2]:

name:Adenosine Deaminase Deficiency

smpdb_id:SMP00144

kegg_map_id:

[3]:

name:Adenylosuccinate Lyase Deficiency

smpdb_id:SMP00167

kegg_map_id:

[4]:

name:AICA-Ribosiduria

smpdb_id:SMP00168

kegg_map_id:

[5]:

name:Azathioprine Action Pathway

smpdb_id:SMP00427

kegg_map_id:

[6]:

name:Gout or Kelley-Seegmiller Syndrome

smpdb_id:SMP00365

kegg_map_id:

[7]:

name:Lesch-Nyhan Syndrome (LNS)

smpdb_id:SMP00364

kegg_map_id:

[8]:

name:Mercaptopurine Action Pathway

smpdb_id:SMP00428

kegg_map_id:

[9]:

name:Mitochondrial DNA depletion syndrome

smpdb_id:SMP00536

kegg_map_id:

[10]:

name:Molybdenum Cofactor Deficiency

smpdb_id:SMP00203

kegg_map_id:

[11]:

name:Myoadenylate deaminase deficiency

smpdb_id:SMP00537

kegg_map_id:

[12]:

name:Purine metabolism

smpdb_id:

kegg_map_id:map00230

[13]:

name:Purine Nucleoside Phosphorylase Deficiency

smpdb_id:SMP00210

kegg_map_id:

[14]:

name:Thioguanine Action Pathway

smpdb_id:SMP00430

kegg_map_id:

[15]:

name:Xanthine Dehydrogenase Deficiency (Xanthinuria)

smpdb_id:SMP00220

kegg_map_id:

[16]:

name:Xanthinuria type I

smpdb_id:SMP00512

kegg_map_id:

[17]:

name:Xanthinuria type II

smpdb_id:SMP00513

kegg_map_id:

正常浓度
1:

biospecimen:Amniotic Fluid

concentration_value:384.18 +/- 203.31

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

2:

biospecimen:Bile

concentration_value:260.0 +/- 63.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

3:

biospecimen:Blood

concentration_value:279.578 +/- 23.794

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:normal

4:

biospecimen:Blood

concentration_value:303 +/- 59

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

5:

biospecimen:Blood

concentration_value:59.485-208.197

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

6:

biospecimen:Blood

concentration_value:210-430

concentration_units:uM

subject_age:Adolescent (13-18 years old)

subject_sex:Male

subject_condition:Normal

7:

biospecimen:Blood

concentration_value:150-360

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

8:

biospecimen:Blood

concentration_value:120-330

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

9:

biospecimen:Blood

concentration_value:120-330

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

10:

biospecimen:Blood

concentration_value:140-410

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

11:

biospecimen:Blood

concentration_value:<350

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

12:

biospecimen:Blood

concentration_value:165-394

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

13:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

14:

biospecimen:Blood

concentration_value:377.6 +/- 82.6

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

15:

biospecimen:Blood

concentration_value:494.2

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

16:

biospecimen:Blood

concentration_value:372.0 (238.0-506.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

17:

biospecimen:Blood

concentration_value:298.0 (149.0-446.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

18:

biospecimen:Blood

concentration_value:271.95 +/- 43.13

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

19:

biospecimen:Blood

concentration_value:256.8 +/- 7.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

20:

biospecimen:Blood

concentration_value:291.475 +/- 59.485

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

21:

biospecimen:Blood

concentration_value:240.91 +/- 82.68

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

22:

biospecimen:Blood

concentration_value:166.56-755.46

concentration_units:uM

subject_age:Newborn (0 - <14 days old)

subject_sex:Both

subject_condition:Normal

23:

biospecimen:Blood

concentration_value:95.18-374.76

concentration_units:uM

subject_age:Infant (15 days - <1 year old)

subject_sex:Both

subject_condition:Normal

24:

biospecimen:Blood

concentration_value:107.073-291.48

concentration_units:uM

subject_age:Children (1 - <12 years old)

subject_sex:Both

subject_condition:Normal

25:

biospecimen:Blood

concentration_value:154.66-350.96

concentration_units:uM

subject_age:Adolescent (12 - <19 years old)

subject_sex:Female

subject_condition:Normal

26:

biospecimen:Blood

concentration_value:154.66-452.084

concentration_units:uM

subject_age:Adolescent (12 - <19 years old)

subject_sex:Male

subject_condition:Normal

27:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

28:

biospecimen:Blood

concentration_value:<400

concentration_units:uM

subject_age:Children (3 months - 6 years old)

subject_sex:Not Specified

subject_condition:Normal

29:

biospecimen:Blood

concentration_value:150-450

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

30:

biospecimen:Blood

concentration_value:120-400

concentration_units:uM

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

31:

biospecimen:Blood

concentration_value:329.0 +/- 129.0

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

32:

biospecimen:Blood

concentration_value:302.0 +/- 60.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

33:

biospecimen:Blood

concentration_value:234.0 +/- 52.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

34:

biospecimen:Blood

concentration_value:118.97

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

35:

biospecimen:Blood

concentration_value:<327

concentration_units:uM

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

36:

biospecimen:Blood

concentration_value:<420

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

37:

biospecimen:Blood

concentration_value:200-420

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

38:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:15.4

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

39:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:10.2+/-6.8

concentration_units:uM

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

40:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:16.0 (4.2-28.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

41:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:22.0 (6.6-37.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

42:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:29.3 (11.9-46.7)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

43:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

44:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

45:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

46:

biospecimen:Saliva

concentration_value:<1.00

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

47:

biospecimen:Saliva

concentration_value:184 +/- 22

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

48:

biospecimen:Saliva

concentration_value:178 +/- 19

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

49:

biospecimen:Saliva

concentration_value:162 +/- 17

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

50:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

51:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

52:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

53:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

54:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

55:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

56:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

57:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

58:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

59:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

60:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

61:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

62:

biospecimen:Urine

concentration_value:186 (93-329)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

63:

biospecimen:Urine

concentration_value:200-500

concentration_units:umol/mmol creatinine

subject_age:Adolescent (13-18 years old)

subject_sex:Male

subject_condition:Normal

64:

biospecimen:Urine

concentration_value:200-500

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

65:

biospecimen:Urine

concentration_value:300-1400

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

66:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

67:

biospecimen:Urine

concentration_value:300-1800

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

68:

biospecimen:Urine

concentration_value:218-543

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

69:

biospecimen:Urine

concentration_value:218.8-4202

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

70:

biospecimen:Urine

concentration_value:1334 +/- 865.8

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Female

subject_condition:Normal

71:

biospecimen:Urine

concentration_value:2024 +/- 1084

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Male

subject_condition:Normal

72:

biospecimen:Urine

concentration_value:206.5 +/- 87.5

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

73:

biospecimen:Urine

concentration_value:166.45 +/- 31.5

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

74:

biospecimen:Urine

concentration_value:23.81-398.74

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

75:

biospecimen:Urine

concentration_value:118.09 +/- 114.57

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

76:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

77:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

78:

biospecimen:Urine

concentration_value:524.75 +/- 249.57

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

79:

biospecimen:Urine

concentration_value:337.84 +/- 29.75

concentration_units:umol/mmol creatinine

subject_age:Adolescent (13-18 years old)

subject_sex:Both

subject_condition:Normal

80:

biospecimen:Urine

concentration_value:209.55 +/- 104.52

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

81:

biospecimen:Urine

concentration_value:209.333 +/- 88.667

concentration_units:umol/mmol creatinine

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

82:

biospecimen:Urine

concentration_value:1076.0554 (807.0416-1412.323)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:

subject_condition:Normal

83:

biospecimen:Urine

concentration_value:679.260 +/- 161.408

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

84:

biospecimen:Urine

concentration_value:228.662 +/- 73.979

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

85:

biospecimen:Urine

concentration_value:197.00 (98.6-293.5)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

86:

biospecimen:Urine

concentration_value:188.0 (78.9-296.0)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

87:

biospecimen:Urine

concentration_value:2000-4000

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

88:

biospecimen:Urine

concentration_value:100-800

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

89:

biospecimen:Urine

concentration_value:176.471 +/- 25.380

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:normal

90:

biospecimen:Urine

concentration_value:200 +/- 0

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

异常浓度
1:

biospecimen:Blood

concentration_value:231.991-243.887

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Primary Hypomagnesemia

2:

biospecimen:Blood

concentration_value:643 +/- 274

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

3:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Schizophrenia

4:

biospecimen:Blood

concentration_value:170-270

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Cerebral creatine deficiency syndrome 2

5:

biospecimen:Blood

concentration_value:350-770

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:D-Lactic Acidosis

6:

biospecimen:Blood

concentration_value:95.176

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:Fanconi Bickel syndrome

7:

biospecimen:Blood

concentration_value:244

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Sulfite oxidase deficiency

8:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Schizophrenia

9:

biospecimen:Blood

concentration_value:400.0 +/- 103.2

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Diabetes

10:

biospecimen:Blood

concentration_value:368.2 +/- 115.0

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Diabetes

11:

biospecimen:Blood

concentration_value:713.817

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Fructose-1,6-bisphosphatase deficiency

12:

biospecimen:Blood

concentration_value:505.620-678.126

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Phosphoribosylpyrophosphate Synthetase Superactivity

13:

biospecimen:Blood

concentration_value:565.105-690.0232

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Phosphoribosylpyrophosphate Synthetase Superactivity

14:

biospecimen:Blood

concentration_value:426.0 +/- 107.4

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Impaired glucose tolerance

15:

biospecimen:Blood

concentration_value:347.5 +/- 105.0

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Impaired glucose tolerance

16:

biospecimen:Blood

concentration_value:0.000420-0.000440

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:congenital disorder of glycosylation CDG-Ia

17:

biospecimen:Blood

concentration_value:493.72 +/- 77.33

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:uremia

18:

biospecimen:Blood

concentration_value:95.176

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Fanconi syndrome

19:

biospecimen:Blood

concentration_value:553.208

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Phosphoribosylpyrophosphate Synthetase Superactivity

20:

biospecimen:Blood

concentration_value:1797.90 +/- 895.44

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Canavan disease

21:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:gastric cancer

22:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:superficial gastric cancer

23:

biospecimen:Blood

concentration_value:476.00 (357.00-714.00)

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:GOUT

24:

biospecimen:Blood

concentration_value:496.429 +/- 264.881

concentration_units:uM

patient_age:Children (3 months - 6 years old)

patient_sex:Not Specified

patient_information:Uremia

25:

biospecimen:Blood

concentration_value:23

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Molybdenium co-factor deficiency

26:

biospecimen:Blood

concentration_value:420

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Long-chain Fatty Acids, Defect in Transport of

27:

biospecimen:Blood

concentration_value:600-1000

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Lesch-Nyhan syndrome

28:

biospecimen:Blood

concentration_value:193.89 +/- 49.05

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Multiple sclerosis

29:

biospecimen:Blood

concentration_value:178.9 +/- 107.0

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Cryptococcus meningitis

30:

biospecimen:Blood

concentration_value:612 +/- 36

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Cachexia

31:

biospecimen:Blood

concentration_value:23.794

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Xanthinuria type 1

32:

biospecimen:Blood

concentration_value:35.691

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Xanthinuria type 1

33:

biospecimen:Blood

concentration_value:459

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

34:

biospecimen:Blood

concentration_value:570

concentration_units:uM

patient_age:Children (1 - 13 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

35:

biospecimen:Blood

concentration_value:<10

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Xanthinuria type 1

36:

biospecimen:Blood

concentration_value:<59.485

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Female

patient_information:Molybdenum cofactor deficiency

37:

biospecimen:Blood

concentration_value:1-3

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Xanthinuria type 1

38:

biospecimen:Blood

concentration_value:148.712-190.351

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:Sulfite oxidase deficiency

39:

biospecimen:Blood

concentration_value:23.794-178.454

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:Molybdenum cofactor deficiency

40:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:35.7

concentration_units:uM

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency

41:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:24.0 (20.1-27.9)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Degenerative disc disease

42:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:125.0 (35.5-215.0)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Meningitis

43:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:22.0

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Adenylosuccinate lyase deficiency

44:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal Cancer

45:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

46:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

47:

biospecimen:Urine

concentration_value:75-277

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Cerebral creatine deficiency syndrome 2

48:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Schizophrenia

49:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Bladder cancer

50:

biospecimen:Urine

concentration_value:1554.14 +/- 748.85

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Canavan disease

51:

biospecimen:Urine

concentration_value:2084.857 (807.0416-3160.913)

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:

patient_information:Fructose intolerance, hereditary

52:

biospecimen:Urine

concentration_value:73.979-423.697

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Nucleotide Depletion Syndrome

53:

biospecimen:Urine

concentration_value:645.633

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Phosphoribosylpyrophosphate Synthetase Superactivity

54:

biospecimen:Urine

concentration_value:1237.464-2192.463

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Phosphoribosylpyrophosphate Synthetase Superactivity

55:

biospecimen:Urine

concentration_value:29

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Molybdenium co-factor deficiency

56:

biospecimen:Urine

concentration_value:1.19

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Xanthinuria type 1

57:

biospecimen:Urine

concentration_value:1.983

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Xanthinuria type 1

58:

biospecimen:Urine

concentration_value:5

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Not Specified

patient_information:Molybdenum cofactor deficiency

59:

biospecimen:Urine

concentration_value:10

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Xanthinuria type 1

60:

biospecimen:Urine

concentration_value:20

concentration_units:umol/mmol creatinine

patient_age:Newborn (0-30 days old)

patient_sex:Not Specified

patient_information:Molybdenum cofactor deficiency

61:

biospecimen:Urine

concentration_value:233.6

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

62:

biospecimen:Urine

concentration_value:0-47

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Xanthinuria type 1

63:

biospecimen:Urine

concentration_value:1900 +/- 900

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

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[1]:

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pubmed_id:3185635

21:

name:congenital disorder of glycosylation CDG-Ia

omim_id:212065

[1]:

reference_text:Harding BN, Dunger DB, Grant DB, Erdohazi M: Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):385-90.

pubmed_id:3162953

22:

name:Molybdenium co-factor deficiency

omim_id:252150

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reference_text:Aukett A, Bennett MJ, Hosking GP: Molybdenum co-factor deficiency: an easily missed inborn error of metabolism. Dev Med Child Neurol. 1988 Aug;30(4):531-5.

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pubmed_id:26644055

23:

name:Fanconi Bickel syndrome

omim_id:227810

[1]:

reference_text:Late Diagnosis of Fanconi-Bickel Syndrome: Challenges With the Diagnosis and Literature Review

pubmed_id:

24:

name:Degenerative disc disease

omim_id:

[1]:

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pubmed_id:6656991

25:

name:Meningitis

omim_id:

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pubmed_id:12581805

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pubmed_id:15627241

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pubmed_id:7729054

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pubmed_id:9542731

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pubmed_id:15061359

[6]:

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pubmed_id:11805243

[7]:

reference_text:Lerche A, Svenson M, Wiik A: Cerebrospinal fluid levels of cyclic nucleotides in meningitis and idiopathic polyneuritis. Acta Neurol Scand. 1984 Mar;69(3):168-75.

pubmed_id:6326460

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pubmed_id:16150112

[9]:

reference_text:Rating D, Siemes H, Loscher W: Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis. J Neurol. 1983;230(4):217-25.

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pubmed_id:8899053

26:

name:Adenylosuccinate lyase deficiency

omim_id:103050

[1]:

reference_text:Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3.

pubmed_id:15571235

[2]:

reference_text:Wevers RA, Engelke UF, Moolenaar SH, Brautigam C, de Jong JG, Duran R, de Abreu RA, van Gennip AH: 1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism. Clin Chem. 1999 Apr;45(4):539-48.

pubmed_id:10102915

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pubmed_id:27504266

27:

name:3-Methyl-crotonyl-glycinuria

omim_id:210200

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pubmed_id:7474896

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pubmed_id:25732994

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reference_text:Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM: Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis. 2003;26(1):25-35.

pubmed_id:12872837

[4]:

reference_text:de Kremer RD, Latini A, Suormala T, Baumgartner ER, Larovere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ: Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis. 2002 Mar;17(1):13-8.

pubmed_id:11893004

[5]:

reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)

pubmed_id:

28:

name:Colorectal cancer

omim_id:114500

[1]:

reference_text:Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8.

pubmed_id:7482520

[2]:

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pubmed_id:19006102

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pubmed_id:23940645

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reference_text:Ritchie SA, Ahiahonu PW, Jayasinghe D, Heath D, Liu J, Lu Y, Jin W, Kavianpour A, Yamazaki Y, Khan AM, Hossain M, Su-Myat KK, Wood PL, Krenitsky K, Takemasa I, Miyake M, Sekimoto M, Monden M, Matsubara H, Nomura F, Goodenowe DB: Reduced levels of hydroxylated, polyunsaturated ultra long-chain fatty acids in the serum of colorectal cancer patients: implications for early screening and detection. BMC Med. 2010 Feb 15;8:13. doi: 10.1186/1741-7015-8-13.

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pubmed_id:19678709

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reference_text:Cheng Y, Xie G, Chen T, Qiu Y, Zou X, Zheng M, Tan B, Feng B, Dong T, He P, Zhao L, Zhao A, Xu LX, Zhang Y, Jia W: Distinct urinary metabolic profile of human colorectal cancer. J Proteome Res. 2012 Feb 3;11(2):1354-63. doi: 10.1021/pr201001a. Epub 2011 Dec 28.

pubmed_id:22148915

[8]:

reference_text:Ni Y, Xie G, Jia W: Metabonomics of human colorectal cancer: new approaches for early diagnosis and biomarker discovery. J Proteome Res. 2014 Sep 5;13(9):3857-70. doi: 10.1021/pr500443c. Epub 2014 Aug 14.

pubmed_id:25105552

[9]:

reference_text:Ikeda A, Nishiumi S, Shinohara M, Yoshie T, Hatano N, Okuno T, Bamba T, Fukusaki E, Takenawa T, Azuma T, Yoshida M: Serum metabolomics as a novel diagnostic approach for gastrointestinal cancer. Biomed Chromatogr. 2012 May;26(5):548-58. doi: 10.1002/bmc.1671. Epub 2011 Jul 20.

pubmed_id:21773981

[10]:

reference_text:Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18.

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reference_text:Silke Matysik, Caroline Ivanne Le Roy, Gerhard Liebisch, Sandrine Paule Claus. Metabolomics of fecal samples: A practical consideration. Trends in Food Science & Technology. Vol. 57, Part B, Nov. 2016, p.244-255: http://www.sciencedirect.com/science/article/pii/S0924224416301984

29:

name:Canavan disease

omim_id:271900

[1]:

reference_text:Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51.

pubmed_id:7729054

[2]:

reference_text:Rothstein JD, Tsai G, Kuncl RW, Clawson L, Cornblath DR, Drachman DB, Pestronk A, Stauch BL, Coyle JT: Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis. Ann Neurol. 1990 Jul;28(1):18-25.

pubmed_id:2375630

[3]:

reference_text:Burlina AP, Ferrari V, Divry P, Gradowska W, Jakobs C, Bennett MJ, Sewell AC, Dionisi-Vici C, Burlina AB: N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr. 1999 May;158(5):406-9.

pubmed_id:10333125

[4]:

reference_text:Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1.

pubmed_id:16139832

[5]:

reference_text:Burlina AP, Ferrari V, Burlina AB, Ermani M, Boespflug-Tanguy O, Bertini E: N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease. Adv Exp Med Biol. 2006;576:353-9; discussion 361-3. doi: 10.1007/0-387-30172-0_26.

pubmed_id:16802726

[6]:

reference_text:Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet. 1988 Feb;29(2):463-71. doi: 10.1002/ajmg.1320290234.

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[7]:

reference_text:Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M: SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherit Metab Dis. 1989;12 Suppl 2:329-31.

pubmed_id:2512436

30:

name:Fructose intolerance, hereditary

omim_id:229600

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reference_text:Steinmann B, Gitzelmann R: The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981 Sep;36(4):297-316.

pubmed_id:6268573

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reference_text:Valadares ER, Cruz AF, Adelino TE, Kanufre Vde C, Ribeiro Mdo C, Penido MG, Peret Filho LA, Valadares LM: Hereditary fructose intolerance in Brazilian patients. Mol Genet Metab Rep. 2015 Jun 15;4:35-8. doi: 10.1016/j.ymgmr.2015.05.007. eCollection 2015 Sep.

pubmed_id:26937407

31:

name:Nucleotide Depletion Syndrome

omim_id:

[1]:

reference_text:Page T, Yu A, Fontanesi J, Nyhan WL: Developmental disorder associated with increased cellular nucleotidase activity. Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11601-6.

pubmed_id:9326656

KEGG数据库编号
C00366
DrugBank数据库编号
DB08844
foodb数据库编号
FDB015350
ChemSpider数据库编号
1142
公共化学化合物编号
1175
PDB数据库编号
生物利益的化学实体数据库编号
17775
knapsack数据库编号
C00007301
维基百科编号
Uric_acid
代谢途径的数据库编号
URATE
苯酚资源管理器化合物数据库编号
比格数据库编号
34768
梅林编号
88
虚拟机身份证编号
URATE
fbonto数据库编号
综合参考
Brenner-Holzach, O.; Leuthardt, F. Uric acid formation from glucose carbon in Drosophila melanogaster. Preliminary report. Helvetica Chimica Acta (1963), 46(4), 1426-8.
一般参考
1:

protein_accession:HMDBP00181

name:Xanthine dehydrogenase/oxidase

uniprot_id:P47989

gene_name:XDH

protein_type:Unknown

2:

protein_accession:HMDBP00370

name:Glycogen phosphorylase, liver form

uniprot_id:P06737

gene_name:PYGL

protein_type:Enzyme

蛋白质结合
1:

reference_text:Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762.

pubmed_id:19212411

2:

reference_text:Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7.

pubmed_id:6656991

3:

reference_text:Kastenbauer S, Koedel U, Becker BF, Pfister HW: Oxidative stress in bacterial meningitis in humans. Neurology. 2002 Jan 22;58(2):186-91.

pubmed_id:11805243

4:

reference_text:Kanbay M, Akcay A, Huddam B, Usluogullari CA, Arat Z, Ozdemir FN, Haberal M: Influence of cyclosporine and tacrolimus on serum uric acid levels in stable kidney transplant recipients. Transplant Proc. 2005 Sep;37(7):3119-20.

pubmed_id:16213325

5:

reference_text:Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3.

pubmed_id:15571235

6:

reference_text:Hanvivadhanakul P, Akkasilpa S, Deesomchok U: Efficacy of benzbromarone compared to allopurinol in lowering serum uric acid level in hyperuricemic patients. J Med Assoc Thai. 2002 Jun;85 Suppl 1:S40-7.

pubmed_id:12188443

7:

reference_text:Kirschbaum B: Correlation studies of plasma paraoxonase activity and uric acid concentration with AAPH-Induced erythrocyte hemolysis in hemodialysis patients. Artif Organs. 2004 Mar;28(3):259-64.

pubmed_id:15046624

8:

reference_text:Sysyn GD, Rozycki HJ: Lack of prognostic significance of early elevated serum uric acid levels in low birthweight infants. Biol Neonate. 2003;83(4):253-7.

pubmed_id:12743454

9:

reference_text:Tumgor G, Arikan C, Kilic M, Aydogdu S: Frequency of hyperuricemia and effect of calcineurin inhibitors on serum uric acid levels in liver transplanted children. Pediatr Transplant. 2006 Sep;10(6):665-8.

pubmed_id:16911488

10:

reference_text:Srinivasan S, Kalaiselvi P, Sakthivel R, Pragasam V, Muthu V, Varalakshmi P: Uric acid: an abettor or protector in calcium oxalate urolithiasis? Biochemical study in stone formers. Clin Chim Acta. 2005 Mar;353(1-2):45-51.

pubmed_id:15698589

11:

reference_text:Puig JG, Torres R, Ruilope LM: AT1 blockers and uric acid metabolism: are there relevant differences? J Hypertens Suppl. 2002 Jun;20(5):S29-31.

pubmed_id:12184060

12:

reference_text:Alderman M, Aiyer KJ: Uric acid: role in cardiovascular disease and effects of losartan. Curr Med Res Opin. 2004 Mar;20(3):369-79.

pubmed_id:15025846

13:

reference_text:Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H: A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int. 2004 Sep;66(3):935-44.

pubmed_id:15327384

14:

reference_text:Williams KP, Galerneau F: The role of serum uric acid as a prognostic indicator of the severity of maternal and fetal complications in hypertensive pregnancies. J Obstet Gynaecol Can. 2002 Aug;24(8):628-32.

pubmed_id:12196841

15:

reference_text:Inoue K, Namiki T, Iwasaki Y, Yoshimura Y, Nakazawa H: Determination of uric acid in human saliva by high-performance liquid chromatography with amperometric electrochemical detection. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Feb 25;785(1):57-63.

pubmed_id:12535838

16:

reference_text:Cacabelos R, Fernandez-Novoa L, Corzo L, Pichel V, Lombardi V, Kubota Y: Genomics and phenotypic profiles in dementia: implications for pharmacological treatment. Methods Find Exp Clin Pharmacol. 2004 Jul-Aug;26(6):421-44.

pubmed_id:15349138

17:

reference_text:Simkin PA, Hoover PL, Paxson CS, Wilson WF: Uric acid excretion: quantitative assessment from spot, midmorning serum and urine samples. Ann Intern Med. 1979 Jul;91(1):44-7.

pubmed_id:464453

18:

reference_text:Mazzali M: Uric acid and transplantation. Semin Nephrol. 2005 Jan;25(1):50-5.

pubmed_id:15660335

19:

reference_text:Duranton F, Cohen G, De Smet R, Rodriguez M, Jankowski J, Vanholder R, Argiles A: Normal and pathologic concentrations of uremic toxins. J Am Soc Nephrol. 2012 Jul;23(7):1258-70. doi: 10.1681/ASN.2011121175. Epub 2012 May 24.

pubmed_id:22626821

20:

reference_text:Ames BN, Cathcart R, Schwiers E, Hochstein P: Uric acid provides an antioxidant defense in humans against oxidant- and radical-caused aging and cancer: a hypothesis. Proc Natl Acad Sci U S A. 1981 Nov;78(11):6858-62.

pubmed_id:6947260

21:

reference_text:Kutzing MK, Firestein BL: Altered uric acid levels and disease states. J Pharmacol Exp Ther. 2008 Jan;324(1):1-7. doi: 10.1124/jpet.107.129031. Epub 2007 Sep 21.

pubmed_id:17890445

22:

reference_text:Kool M, Willart MA, van Nimwegen M, Bergen I, Pouliot P, Virchow JC, Rogers N, Osorio F, Reis e Sousa C, Hammad H, Lambrecht BN: An unexpected role for uric acid as an inducer of T helper 2 cell immunity to inhaled antigens and inflammatory mediator of allergic asthma. Immunity. 2011 Apr 22;34(4):527-40. doi: 10.1016/j.immuni.2011.03.015. Epub 2011 Apr 7.

pubmed_id:21474346

23:

reference_text:Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043.

pubmed_id:32033212

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