疾病参考
1:
name:Bipolar disorder
omim_id:125480
[1]:
reference_text:Walker EF, Bonsall R, Walder DJ: Plasma hormones and catecholamine metabolites in monozygotic twins discordant for psychosis. Neuropsychiatry Neuropsychol Behav Neurol. 2002 Mar;15(1):10-7.
pubmed_id:11877547
[2]:
reference_text:Ryden E, Johansson C, Blennow K, Landen M: Lower CSF HVA and 5-HIAA in bipolar disorder type 1 with a history of childhood ADHD. J Neural Transm (Vienna). 2009 Dec;116(12):1667-74. doi: 10.1007/s00702-009-0300-3. Epub 2009 Sep 12.
pubmed_id:19756368
2:
name:Tic disorder
omim_id:
[1]:
reference_text:Hoekstra PJ, Anderson GM, Troost PW, Kallenberg CG, Minderaa RB: Plasma kynurenine and related measures in tic disorder patients. Eur Child Adolesc Psychiatry. 2007 Jun;16 Suppl 1:71-7. doi: 10.1007/s00787-007-1009-1.
pubmed_id:17665285
3:
name:Schizophrenia
omim_id:181500
[1]:
reference_text:Harnryd C, Bjerkenstedt L, Grimm VE, Sedvall G: Reduction of MOPEG levels in cerebrospinal fluid of psychotic women after electroconvulsive treatment. Psychopharmacology (Berl). 1979 Aug 8;64(2):131-4.
pubmed_id:115032
[2]:
reference_text:Kobayashi K, Koide Y, Yoshino K, Shohmori T: [P-hydroxyphenylacetic acid concentrations in cerebrospinal fluid]. No To Shinkei. 1982 Aug;34(8):769-74.
pubmed_id:7126379
[3]:
reference_text:Alfredsson G, Wiesel FA: Monoamine metabolites and amino acids in serum from schizophrenic patients before and during sulpiride treatment. Psychopharmacology (Berl). 1989;99(3):322-7.
pubmed_id:2480613
[4]:
reference_text:Heresco-Levy U, Bar G, Levin R, Ermilov M, Ebstein RP, Javitt DC: High glycine levels are associated with prepulse inhibition deficits in chronic schizophrenia patients. Schizophr Res. 2007 Mar;91(1-3):14-21. Epub 2007 Feb 2.
pubmed_id:17276036
[5]:
reference_text:Walker EF, Bonsall R, Walder DJ: Plasma hormones and catecholamine metabolites in monozygotic twins discordant for psychosis. Neuropsychiatry Neuropsychol Behav Neurol. 2002 Mar;15(1):10-7.
pubmed_id:11877547
[6]:
reference_text:Hashimoto K, Fukushima T, Shimizu E, Komatsu N, Watanabe H, Shinoda N, Nakazato M, Kumakiri C, Okada S, Hasegawa H, Imai K, Iyo M: Decreased serum levels of D-serine in patients with schizophrenia: evidence in support of the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia. Arch Gen Psychiatry. 2003 Jun;60(6):572-6.
pubmed_id:12796220
[7]:
reference_text:Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62.
pubmed_id:7595563
[8]:
reference_text:Nikisch G, Baumann P, Wiedemann G, Kiessling B, Weisser H, Hertel A, Yoshitake T, Kehr J, Mathe AA: Quetiapine and norquetiapine in plasma and cerebrospinal fluid of schizophrenic patients treated with quetiapine: correlations to clinical outcome and HVA, 5-HIAA, and MHPG in CSF. J Clin Psychopharmacol. 2010 Oct;30(5):496-503. doi: 10.1097/JCP.0b013e3181f2288e.
pubmed_id:20814316
[9]:
reference_text:Fukushima T, Iizuka H, Yokota A, Suzuki T, Ohno C, Kono Y, Nishikiori M, Seki A, Ichiba H, Watanabe Y, Hongo S, Utsunomiya M, Nakatani M, Sadamoto K, Yoshio T: Quantitative analyses of schizophrenia-associated metabolites in serum: serum D-lactate levels are negatively correlated with gamma-glutamylcysteine in medicated schizophrenia patients. PLoS One. 2014 Jul 8;9(7):e101652. doi: 10.1371/journal.pone.0101652. eCollection 2014.
pubmed_id:25004141
[10]:
reference_text:Koike S, Bundo M, Iwamoto K, Suga M, Kuwabara H, Ohashi Y, Shinoda K, Takano Y, Iwashiro N, Satomura Y, Nagai T, Natsubori T, Tada M, Yamasue H, Kasai K: A snapshot of plasma metabolites in first-episode schizophrenia: a capillary electrophoresis time-of-flight mass spectrometry study. Transl Psychiatry. 2014 Apr 8;4:e379. doi: 10.1038/tp.2014.19.
pubmed_id:24713860
[11]:
reference_text:Ballesteros A, Summerfelt A, Du X, Jiang P, Chiappelli J, Tagamets M, O'Donnell P, Kochunov P, Hong LE: Electrophysiological intermediate biomarkers for oxidative stress in schizophrenia. Clin Neurophysiol. 2013 Nov;124(11):2209-15. doi: 10.1016/j.clinph.2013.05.021. Epub 2013 Jun 30.
pubmed_id:23823132
[12]:
reference_text:Bjerkenstedt L, Edman G, Hagenfeldt L, Sedvall G, Wiesel FA: Plasma amino acids in relation to cerebrospinal fluid monoamine metabolites in schizophrenic patients and healthy controls. Br J Psychiatry. 1985 Sep;147:276-82.
pubmed_id:2415198
[13]:
reference_text:Pickar D, Breier A, Hsiao JK, Doran AR, Wolkowitz OM, Pato CN, Konicki PE, Potter WZ: Cerebrospinal fluid and plasma monoamine metabolites and their relation to psychosis. Implications for regional brain dysfunction in schizophrenia. Arch Gen Psychiatry. 1990 Jul;47(7):641-8.
pubmed_id:1694425
[14]:
reference_text:Prell GD, Green JP, Kaufmann CA, Khandelwal JK, Morrishow AM, Kirch DG, Linnoila M, Wyatt RJ: Histamine metabolites in cerebrospinal fluid of patients with chronic schizophrenia: their relationships to levels of other aminergic transmitters and ratings of symptoms. Schizophr Res. 1995 Jan;14(2):93-104.
pubmed_id:7711000
[15]:
reference_text:Kim YK, Myint AM, Verkerk R, Scharpe S, Steinbusch H, Leonard B: Cytokine changes and tryptophan metabolites in medication-naive and medication-free schizophrenic patients. Neuropsychobiology. 2009;59(2):123-9. doi: 10.1159/000213565. Epub 2009 Apr 22.
pubmed_id:19390223
[16]:
reference_text:Yang J, Chen T, Sun L, Zhao Z, Qi X, Zhou K, Cao Y, Wang X, Qiu Y, Su M, Zhao A, Wang P, Yang P, Wu J, Feng G, He L, Jia W, Wan C: Potential metabolite markers of schizophrenia. Mol Psychiatry. 2013 Jan;18(1):67-78. doi: 10.1038/mp.2011.131. Epub 2011 Oct 25.
pubmed_id:22024767
[17]:
reference_text:Xuan J, Pan G, Qiu Y, Yang L, Su M, Liu Y, Chen J, Feng G, Fang Y, Jia W, Xing Q, He L: Metabolomic profiling to identify potential serum biomarkers for schizophrenia and risperidone action. J Proteome Res. 2011 Dec 2;10(12):5433-43. doi: 10.1021/pr2006796. Epub 2011 Nov 8.
pubmed_id:22007635
[18]:
reference_text:Schwarz E, Guest PC, Rahmoune H, Harris LW, Wang L, Leweke FM, Rothermundt M, Bogerts B, Koethe D, Kranaster L, Ohrmann P, Suslow T, McAllister G, Spain M, Barnes A, van Beveren NJ, Baron-Cohen S, Steiner J, Torrey FE, Yolken RH, Bahn S: Identification of a biological signature for schizophrenia in serum. Mol Psychiatry. 2012 May;17(5):494-502. doi: 10.1038/mp.2011.42. Epub 2011 Apr 12.
pubmed_id:21483431
[19]:
reference_text:Mathe AA, Eberhard G, Saaf J, Wetterberg L: Plasma prostaglandin E2 metabolite--measured as 11-deoxy-15-keto-13,14-dihydro-11 beta,16 xi-cyclo-PGE2--in twins with schizophrenic disorder. Biol Psychiatry. 1986 Sep;21(11):1024-30.
pubmed_id:3741918
[20]:
reference_text:Kuloglu M, Ustundag B, Atmaca M, Canatan H, Tezcan AE, Cinkilinc N: Lipid peroxidation and antioxidant enzyme levels in patients with schizophrenia and bipolar disorder. Cell Biochem Funct. 2002 Jun;20(2):171-5.
pubmed_id:11979513
[21]:
reference_text:Zumarraga M, Davila R, Basterreche N, Arrue A, Goienetxea B, Zamalloa MI, Erkoreka L, Bustamante S, Inchausti L, Gonzalez-Torres MA, Guimon J: Catechol O-methyltransferase and monoamine oxidase A genotypes, and plasma catecholamine metabolites in bipolar and schizophrenic patients. Neurochem Int. 2010 May-Jun;56(6-7):774-9. doi: 10.1016/j.neuint.2010.02.015. Epub 2010 Mar 4.
pubmed_id:20206656
[22]:
reference_text:Peters JG: Dopamine, noradrenaline and serotonin spinal fluid metabolites in temporal lobe epileptic patients with schizophrenic symptomatology. Eur Neurol. 1979;18(1):15-8.
pubmed_id:436860
[23]:
reference_text:Yao JK, Dougherty GG Jr, Reddy RD, Keshavan MS, Montrose DM, Matson WR, Rozen S, Krishnan RR, McEvoy J, Kaddurah-Daouk R: Altered interactions of tryptophan metabolites in first-episode neuroleptic-naive patients with schizophrenia. Mol Psychiatry. 2010 Sep;15(9):938-53. doi: 10.1038/mp.2009.33. Epub 2009 Apr 28.
pubmed_id:19401681
[24]:
reference_text:Gattaz WF, Waldmeier P, Beckmann H: CSF monoamine metabolites in schizophrenic patients. Acta Psychiatr Scand. 1982 Nov;66(5):350-60.
pubmed_id:6184954
[25]:
reference_text:Nilsson-Todd LK, Nordin C, Jonsson EG, Skogh E, Erhardt S: Cerebrospinal fluid kynurenic acid in male patients with schizophrenia - correlation with monoamine metabolites. Acta Neuropsychiatr. 2007 Feb;19(1):45-52. doi: 10.1111/j.1601-5215.2006.00170.x.
pubmed_id:26952797
[26]:
reference_text:Cai HL, Li HD, Yan XZ, Sun B, Zhang Q, Yan M, Zhang WY, Jiang P, Zhu RH, Liu YP, Fang PF, Xu P, Yuan HY, Zhang XH, Hu L, Yang W, Ye HS: Metabolomic analysis of biochemical changes in the plasma and urine of first-episode neuroleptic-naive schizophrenia patients after treatment with risperidone. J Proteome Res. 2012 Aug 3;11(8):4338-50. doi: 10.1021/pr300459d. Epub 2012 Jul 26.
pubmed_id:22800120
[27]:
reference_text:Al Awam K, Haussleiter IS, Dudley E, Donev R, Brune M, Juckel G, Thome J: Multiplatform metabolome and proteome profiling identifies serum metabolite and protein signatures as prospective biomarkers for schizophrenia. J Neural Transm (Vienna). 2015 Aug;122 Suppl 1:S111-22. doi: 10.1007/s00702-014-1224-0. Epub 2014 May 1.
pubmed_id:24789758
[28]:
reference_text:Bicikova M, Hill M, Ripova D, Mohr P, Hampl R: Determination of steroid metabolome as a possible tool for laboratory diagnosis of schizophrenia. J Steroid Biochem Mol Biol. 2013 Jan;133:77-83. doi: 10.1016/j.jsbmb.2012.08.009. Epub 2012 Aug 24.
pubmed_id:22944140
[29]:
reference_text:He Y, Yu Z, Giegling I, Xie L, Hartmann AM, Prehn C, Adamski J, Kahn R, Li Y, Illig T, Wang-Sattler R, Rujescu D: Schizophrenia shows a unique metabolomics signature in plasma. Transl Psychiatry. 2012 Aug 14;2:e149. doi: 10.1038/tp.2012.76.
pubmed_id:22892715
[30]:
reference_text:Kaddurah-Daouk R, McEvoy J, Baillie RA, Lee D, Yao JK, Doraiswamy PM, Krishnan KR: Metabolomic mapping of atypical antipsychotic effects in schizophrenia. Mol Psychiatry. 2007 Oct;12(10):934-45. Epub 2007 Apr 17.
pubmed_id:17440431
[31]:
reference_text:Fryar-Williams S, Strobel JE: Biomarkers of a five-domain translational substrate for schizophrenia and schizoaffective psychosis. Biomark Res. 2015 Feb 6;3:3. doi: 10.1186/s40364-015-0028-1. eCollection 2015.
pubmed_id:25729574
[32]:
reference_text:Oresic M, Seppanen-Laakso T, Sun D, Tang J, Therman S, Viehman R, Mustonen U, van Erp TG, Hyotylainen T, Thompson P, Toga AW, Huttunen MO, Suvisaari J, Kaprio J, Lonnqvist J, Cannon TD: Phospholipids and insulin resistance in psychosis: a lipidomics study of twin pairs discordant for schizophrenia. Genome Med. 2012 Jan 18;4(1):1. doi: 10.1186/gm300.
pubmed_id:22257447
4:
name:ACTH deficiency, isolated
omim_id:201400
[1]:
reference_text:Harano Y, Kitano A, Akiyama Y, Kotajima L, Honda K, Arioka H: A case of isolated adrenocorticotropic hormone deficiency: a rare but possible cause of hypercalcemia. Int Med Case Rep J. 2015 Mar 27;8:77-9. doi: 10.2147/IMCRJ.S63778. eCollection 2015.
pubmed_id:25870516
[2]:
reference_text:Aynsley-Green A, Moncrieff MW, Ratter S, Benedict CR, Storrs CN: Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy. Arch Dis Child. 1978 Jun;53(6):499-502.
pubmed_id:210721
[3]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
5:
name:Adrenal hypoplasia
omim_id:300200
[1]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
6:
name:Apparent mineralocorticoid excess
omim_id:218030
[1]:
reference_text:New MI, Levine LS, Biglieri EG, Pareira J, Ulick S: Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol Metab. 1977 May;44(5):924-33. doi: 10.1210/jcem-44-5-924.
pubmed_id:870517
7:
name:Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
omim_id:201810
[1]:
reference_text:Hattori N, Ishihara T, Moridera K, Hino M, Ikekubo K, Kurahachi H: A case of late-onset congenital adrenal hyperplasia due to partial 3 beta-hydroxysteroid dehydrogenase deficiency. Endocr J. 1993 Feb;40(1):107-9.
pubmed_id:7951484
[2]:
reference_text:Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S: Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002 Jun;87(6):2611-22. doi: 10.1210/jcem.87.6.8615.
pubmed_id:12050224
[3]:
reference_text:Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA: Severe Salt-Losing 3beta-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. J Clin Endocrinol Metab. 2015 Aug;100(8):E1105-15. doi: 10.1210/jc.2015-2098. Epub 2015 Jun 16.
pubmed_id:26079780
[4]:
reference_text:Guven A, Polat S: Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):85-90. doi: 10.4274/jcrpe.3306. Epub 2016 Jul 29.
pubmed_id:27476613
8:
name:Aromatase deficiency
omim_id:613546
[1]:
reference_text:Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H: Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab. 1997 Jun;82(6):1739-45. doi: 10.1210/jcem.82.6.3994.
pubmed_id:9177373
9:
name:3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
omim_id:605911
[1]:
reference_text:Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA: Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med. 1997 Oct 23;337(17):1203-7. doi: 10.1056/NEJM199710233371704.
pubmed_id:9337379
[2]:
reference_text:Morris AA, Lascelles CV, Olpin SE, Lake BD, Leonard JV, Quant PA: Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency. Pediatr Res. 1998 Sep;44(3):392-6. doi: 10.1203/00006450-199809000-00021.
pubmed_id:9727719
[3]:
reference_text:Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B: Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. JIMD Rep. 2017 Oct 14. doi: 10.1007/8904_2017_59.
pubmed_id:29030856
10:
name:3-Hydroxyacyl-CoA dehydrogenase deficiency
omim_id:231530
[1]:
reference_text:Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA: Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr. 2001 Mar;138(3):383-9. doi: 10.1067/mpd.2001.111818.
pubmed_id:11241047
[2]:
reference_text:Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE: Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest. 2001 Aug;108(3):457-65.
pubmed_id:11489939
[3]:
reference_text:Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E, Sovik O: Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 2004 Jan;53(1):221-7.
pubmed_id:14693719
[4]:
reference_text:Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13.
pubmed_id:22579592
[5]:
reference_text:Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M: 3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6.
pubmed_id:23430856
11:
name:Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
omim_id:201750
[1]:
reference_text:Breckenridge WC, Alaupovic P, Cox DW, Little JA: Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency. Atherosclerosis. 1982 Aug;44(2):223-35.
pubmed_id:7138621
[2]:
reference_text:Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T: Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res. 2006 Feb;59(2):276-80. doi: 10.1203/01.pdr.0000195825.31504.28.
pubmed_id:16439592
12:
name:Congenital Adrenal Hyperplasia, due to 17-Hydroxylase-Deficiency
omim_id:202110
[1]:
reference_text:Wong SL, Shu SG, Tsai CR: Seventeen alpha-hydroxylase deficiency. J Formos Med Assoc. 2006 Feb;105(2):177-81. doi: 10.1016/S0929-6646(09)60342-9.
pubmed_id:16477341
[2]:
reference_text:Kim SM, Rhee JH: A case of 17 alpha-hydroxylase deficiency. Clin Exp Reprod Med. 2015 Jun;42(2):72-6. doi: 10.5653/cerm.2015.42.2.72. Epub 2015 Jun 30.
pubmed_id:26161337
13:
name:Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
omim_id:613743
[1]:
reference_text:Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL: Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8.
pubmed_id:18182448
14:
name:3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
omim_id:246450
[1]:
reference_text:Jakobs C, Bojasch M, Duran M, Ketting D, Wadman SK, Leupold D: 3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Clin Chim Acta. 1980 Sep 8;106(1):85-9.
pubmed_id:6157502
[2]:
reference_text:Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. Hum Genet. 2000 Oct;107(4):320-6.
pubmed_id:11129331
[3]:
reference_text:Grunert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrazova L, Balci MC, Bischof F, Coker M, Das AM, Demirkol M, de Vries M, Gokcay G, Haberle J, Ucar SK, Lotz-Havla AS, Lucke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22.
pubmed_id:28583327
[4]:
reference_text:Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30.
pubmed_id:15505778
[5]:
reference_text:Dos Santos Mello M, Ribas GS, Wayhs CA, Hammerschmidt T, Guerreiro GB, Favenzani JL, Sitta A, de Moura Coelho D, Wajner M, Vargas CR: Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria. Mol Cell Biochem. 2015 Apr;402(1-2):149-55. doi: 10.1007/s11010-014-2322-x. Epub 2015 Jan 4.
pubmed_id:25557019
[6]:
reference_text:Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33.
pubmed_id:23705938
[7]:
reference_text:Ozand PT, al Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J Inherit Metab Dis. 1991;14(2):174-88.
pubmed_id:1886403
[8]:
reference_text:Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pie J, Hoffmann GF, Hegardt FG, Mayatepek E: The diagnosis of mitochondrial HMG-CoA synthase deficiency. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854.
pubmed_id:12072887
[9]:
reference_text:Leung AA, Chan AK, Ezekowitz JA, Leung AK: A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency. Case Rep Med. 2009;2009:183125. doi: 10.1155/2009/183125. Epub 2009 Nov 4.
pubmed_id:19893767
[10]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
15:
name:Bartter Syndrome, Type 2, Antenatal
omim_id:241200
[1]:
reference_text:Chan WK, To KF, Tong JH, Law CW: Paradoxical hypertension and salt wasting in Type II Bartter syndrome. Clin Kidney J. 2012 Jun;5(3):217-20. doi: 10.1093/ckj/sfs026. Epub 2012 Mar 29.
pubmed_id:26069767
16:
name:Glucocorticoid resistance
omim_id:615962
[1]:
reference_text:Donner KM, Hiltunen TP, Janne OA, Sane T, Kontula K: Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1. Eur J Endocrinol. 2012 Dec 10;168(1):K9-K18. doi: 10.1530/EJE-12-0532. Print 2013 Jan.
pubmed_id:23076843
17:
name:Proprotein Convertase 1/3 Deficiency
omim_id:600955
[1]:
reference_text:O'Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C: Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. N Engl J Med. 1995 Nov 23;333(21):1386-90. doi: 10.1056/NEJM199511233332104.
pubmed_id:7477119
18:
name:Lipoid Congenital Adrenal Hyperplasia
omim_id:201710
[1]:
reference_text:Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF 3rd: Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. J Clin Invest. 1997 Mar 15;99(6):1265-71. doi: 10.1172/JCI119284.
pubmed_id:9077535
[2]:
reference_text:Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL: Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf). 1985 Nov;23(5):481-93.
pubmed_id:3841304
19:
name:Corticosterone methyl oxidase I deficiency
omim_id:203400
[1]:
reference_text:Ustyol A, Atabek ME, Taylor N, Yeung MC, Chan AO: Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):356-9. doi: 10.4274/jcrpe.2824. Epub 2016 Apr 29.
pubmed_id:27125267
20:
name:Benign gynecological diseases
omim_id:
[1]:
reference_text:Murakami K, Nakagawa T, Shozu M, Uchide K, Koike K, Inoue M: Changes with aging of steroidal levels in the cerebrospinal fluid of women. Maturitas. 1999 Sep 24;33(1):71-80.
pubmed_id:10585175
21:
name:Functional hypothalamic amenorrhea
omim_id:
[1]:
reference_text:Brundu B, Loucks TL, Adler LJ, Cameron JL, Berga SL: Increased cortisol in the cerebrospinal fluid of women with functional hypothalamic amenorrhea. J Clin Endocrinol Metab. 2006 Apr;91(4):1561-5. Epub 2006 Feb 7.
pubmed_id:16464944
22:
name:Stress
omim_id:
[1]:
reference_text:Krahwinkel T, Nastali S, Azrak B, Willershausen B: The effect of examination stress conditions on the cortisol content of saliva - a study of students from clinical semesters. Eur J Med Res. 2004 May 28;9(5):256-60.
pubmed_id:15257879
23:
name:Anorexia nervosa
omim_id:606788
[1]:
reference_text:Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8.
pubmed_id:10197568
[2]:
reference_text:Vierhapper H, Kiss A, Nowotny P, Wiesnagrotzki S, Monder C, Waldhausl W: Metabolism of cortisol in anorexia nervosa. Acta Endocrinol (Copenh). 1990 Jun;122(6):753-8.
pubmed_id:2165347
[3]:
reference_text:Anderson GM, Gerner RH, Cohen DJ, Fairbanks L: Central tryptamine turnover in depression, schizophrenia, and anorexia: measurement of indoleacetic acid in cerebrospinal fluid. Biol Psychiatry. 1984 Oct;19(10):1427-35.
pubmed_id:6518200
24:
name:Rheumatoid arthritis
omim_id:180300
[1]:
reference_text:Laitinen O, Seppala E, Nissila M, Vapaatalo H: Plasma levels and urinary excretion of prostaglandins in patients with rheumatoid arthritis. Clin Rheumatol. 1983 Dec;2(4):401-6.
pubmed_id:6589104
[2]:
reference_text:Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13.
pubmed_id:16277678
[3]:
reference_text:Jensen T, Klarlund M, Hansen M, Jensen KE, Skjodt H, Hyldstrup L: Connective tissue metabolism in patients with unclassified polyarthritis and early rheumatoid arthritis. Relationship to disease activity, bone mineral density, and radiographic outcome. J Rheumatol. 2004 Sep;31(9):1698-708.
pubmed_id:15338487
[4]:
reference_text:Chavis C, Fraissinet L, Chanez P, Thomas E, Bousquet J: A method for the measurement of plasma hydroxyeicosatetraenoic acid levels. Anal Biochem. 1999 Jun 15;271(1):105-8.
pubmed_id:10361015
[5]:
reference_text:Straub RH, Weidler C, Demmel B, Herrmann M, Kees F, Schmidt M, Scholmerich J, Schedel J: Renal clearance and daily excretion of cortisol and adrenal androgens in patients with rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2004 Aug;63(8):961-8.
pubmed_id:15249323
[6]:
reference_text:Tie-juan ShaoZhi-xing HeZhi-jun XieHai-chang LiMei-jiao WangCheng-ping Wen. Characterization of ankylosing spondylitis and rheumatoid arthritis using 1H NMR-based metabolomics of human fecal extracts. Metabolomics. April 2016, 12:70: https://link.springer.com/article/10.1007/s11306-016-1000-2
25:
name:Leptin Deficiency or Dysfunction
omim_id:614962
[1]:
reference_text:Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S: Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med. 1999 Sep 16;341(12):879-84. doi: 10.1056/NEJM199909163411204.
pubmed_id:10486419
蛋白质结合
1:
reference_text:Schwarz S, Pohl P: Steroid hormones and steroid hormone binding globulins in cerebrospinal fluid studied in individuals with intact and with disturbed blood-cerebrospinal fluid barrier. Neuroendocrinology. 1992 Feb;55(2):174-82.
pubmed_id:1620285
2:
reference_text:Al-Damluji S, Iveson T, Thomas JM, Pendlebury DJ, Rees LH, Besser GM: Food-induced cortisol secretion is mediated by central alpha-1 adrenoceptor modulation of pituitary ACTH secretion. Clin Endocrinol (Oxf). 1987 May;26(5):629-36.
pubmed_id:2822298
3:
reference_text:Krahwinkel T, Nastali S, Azrak B, Willershausen B: The effect of examination stress conditions on the cortisol content of saliva - a study of students from clinical semesters. Eur J Med Res. 2004 May 28;9(5):256-60.
pubmed_id:15257879
4:
reference_text:Rubin RT, Miller TH, Rhodes ME, Czambel RK: Adrenal cortical responses to low- and high-dose ACTH(1-24) administration in major depressives vs. matched controls. Psychiatry Res. 2006 Jun 30;143(1):43-50. Epub 2006 May 16.
pubmed_id:16707164
5:
reference_text:Morris JG, Nevill ME, Boobis LH, Macdonald IA, Williams C: Muscle metabolism, temperature, and function during prolonged, intermittent, high-intensity running in air temperatures of 33 degrees and 17 degrees C. Int J Sports Med. 2005 Dec;26(10):805-14.
pubmed_id:16320162
6:
reference_text:Deuschle M, Lecei O, Stalla GK, Landgraf R, Hamann B, Lederbogen F, Uhr M, Luppa P, Maras A, Colla M, Heuser I: Steroid synthesis inhibition with ketoconazole and its effect upon the regulation of the hypothalamus-pituitary-adrenal system in healthy humans. Neuropsychopharmacology. 2003 Feb;28(2):379-83. Epub 2002 Aug 12.
pubmed_id:12589391
7:
reference_text:Clauss SB, Holmes KW, Hopkins P, Stein E, Cho M, Tate A, Johnson-Levonas AO, Kwiterovich PO: Efficacy and safety of lovastatin therapy in adolescent girls with heterozygous familial hypercholesterolemia. Pediatrics. 2005 Sep;116(3):682-8.
pubmed_id:16140708
8:
reference_text:Stark JG, Werner S, Homrighausen S, Tang Y, Krieg M, Derendorf H, Moellmann H, Hochhaus G: Pharmacokinetic/pharmacodynamic modeling of total lymphocytes and selected subtypes after oral budesonide. J Pharmacokinet Pharmacodyn. 2006 Aug;33(4):441-59. Epub 2006 Apr 22.
pubmed_id:16633890
9:
reference_text:Makras P, Koukoulis GN, Bourikas G, Papatheodorou G, Bedevis K, Menounos P, Pappas D, Kartalis G: Effect of 4 weeks of basic military training on peripheral blood leucocytes and urinary excretion of catecholamines and cortisol. J Sports Sci. 2005 Aug;23(8):825-34.
pubmed_id:16195034
10:
reference_text:Costa A, Benedetto C, Fabris C, Giraudi GF, Testori O, Bertino E, Marozio L, Varvello G, Arisio R, Ariano M, Emanuel A: Cortisol in human tissues at different stages of life. J Endocrinol Invest. 1996 Jul-Aug;19(7):463-71.
pubmed_id:8884541
11:
reference_text:Targher G, Bertolini L, Zoppini G, Zenari L, Falezza G: Relationship of non-alcoholic hepatic steatosis to cortisol secretion in diet-controlled Type 2 diabetic patients. Diabet Med. 2005 Sep;22(9):1146-50.
pubmed_id:16108840
12:
reference_text:Pruessner JC, Baldwin MW, Dedovic K, Renwick R, Mahani NK, Lord C, Meaney M, Lupien S: Self-esteem, locus of control, hippocampal volume, and cortisol regulation in young and old adulthood. Neuroimage. 2005 Dec;28(4):815-26. Epub 2005 Jul 14.
pubmed_id:16023372
13:
reference_text:Whorwood CB, Donovan SJ, Flanagan D, Phillips DI, Byrne CD: Increased glucocorticoid receptor expression in human skeletal muscle cells may contribute to the pathogenesis of the metabolic syndrome. Diabetes. 2002 Apr;51(4):1066-75.
pubmed_id:11916927
14:
reference_text:Takahashi T, Ikeda K, Ishikawa M, Tsukasaki T, Nakama D, Tanida S, Kameda T: Social stress-induced cortisol elevation acutely impairs social memory in humans. Neurosci Lett. 2004 Jun 10;363(2):125-30.
pubmed_id:15172099
15:
reference_text:Chapman TE, Kraan GP, Nagel GT, Wolthers BG, Drayer NM: Measurement of the cortisol production rate in two sisters with 17 alpha-hydroxylase deficiency using [1,2,3,4-13C]cortisol and isotope dilution mass spectrometry. J Steroid Biochem Mol Biol. 1991 Apr;38(4):489-96.
pubmed_id:2031862
16:
reference_text:Heckmann M, Wudy SA, Haack D, Pohlandt F: Reference range for serum cortisol in well preterm infants. Arch Dis Child Fetal Neonatal Ed. 1999 Nov;81(3):F171-4.
pubmed_id:10525017
17:
reference_text:Turpeinen U, Markkanen H, Valimaki M, Stenman UH: Determination of urinary free cortisol by HPLC. Clin Chem. 1997 Aug;43(8 Pt 1):1386-91.
pubmed_id:9267318
18:
reference_text:Chrousos GP, Ghaly L, Shedden A, Iezzoni DG, Harris AG: Effects of mometasone furoate dry powder inhaler and beclomethasone dipropionate hydrofluoroalkane and chlorofluorocarbon on the hypothalamic-pituitary-adrenal axis in asthmatic subjects. Chest. 2005 Jul;128(1):70-7.
pubmed_id:16002918
19:
reference_text:Ritsner M, Gibel A, Maayan R, Ratner Y, Ram E, Biadsy H, Modai I, Weizman A: Cortisol/dehydroepiandrosterone ratio and responses to antipsychotic treatment in schizophrenia. Neuropsychopharmacology. 2005 Oct;30(10):1913-22.
pubmed_id:15870835
20:
reference_text:Seidegard J, Dahlstrom K, Kullberg A: Effect of grapefruit juice on urinary 6 beta-hydroxycortisol/cortisol excretion. Clin Exp Pharmacol Physiol. 1998 May;25(5):379-81.
pubmed_id:9612666
21:
reference_text:Palacios R, Sugawara I: Hydrocortisone abrogates proliferation of T cells in autologous mixed lymphocyte reaction by rendering the interleukin-2 Producer T cells unresponsive to interleukin-1 and unable to synthesize the T-cell growth factor. Scand J Immunol. 1982 Jan;15(1):25-31.
pubmed_id:6461917
22:
reference_text:de Weerth C, Zijl RH, Buitelaar JK: Development of cortisol circadian rhythm in infancy. Early Hum Dev. 2003 Aug;73(1-2):39-52.
pubmed_id:12932892
23:
reference_text:KNIGHT RP Jr, KORNFELD DS, GLASER GH, BONDY PK: Effects of intravenous hydrocortisone on electrolytes of serum and urine in man. J Clin Endocrinol Metab. 1955 Feb;15(2):176-81.
pubmed_id:13233328
24:
reference_text:Simons K, Toomre D: Lipid rafts and signal transduction. Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9.
pubmed_id:11413487
25:
reference_text:Watson AD: Thematic review series: systems biology approaches to metabolic and cardiovascular disorders. Lipidomics: a global approach to lipid analysis in biological systems. J Lipid Res. 2006 Oct;47(10):2101-11. Epub 2006 Aug 10.
pubmed_id:16902246
26:
reference_text:Sethi JK, Vidal-Puig AJ: Thematic review series: adipocyte biology. Adipose tissue function and plasticity orchestrate nutritional adaptation. J Lipid Res. 2007 Jun;48(6):1253-62. Epub 2007 Mar 20.
pubmed_id:17374880
27:
reference_text:Lingwood D, Simons K: Lipid rafts as a membrane-organizing principle. Science. 2010 Jan 1;327(5961):46-50. doi: 10.1126/science.1174621.
pubmed_id:20044567
28:
reference_text:The lipid handbook with CD-ROM