疾病参考
1:
name:Infantile Refsum's disease
omim_id:266510
[1]:
reference_text:Poll-The BT, Saudubray JM, Ogier H, Schutgens RB, Wanders RJ, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW, et al.: Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis. 1986;9(2):169-74.
pubmed_id:2427795
[2]:
reference_text:Poulos A, Sharp P, Fellenberg AJ, Danks DM: Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. 1985;70(2):172-7.
pubmed_id:2408988
[3]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
2:
name:Rhizomelic chondrodysplasia punctata
omim_id:215100
[1]:
reference_text:Baumgartner MR, Poll-The BT, Verhoeven NM, Jakobs C, Espeel M, Roels F, Rabier D, Levade T, Rolland MO, Martinez M, Wanders RJ, Saudubray JM: Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998 Nov;44(5):720-30.
pubmed_id:9818927
3:
name:Refsum's disease
omim_id:266500
[1]:
reference_text:Wierzbicki AS, Mayne PD, Lloyd MD, Burston D, Mei G, Sidey MC, Feher MD, Gibberd FB: Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. J Lipid Res. 2003 Aug;44(8):1481-8. Epub 2003 Apr 16.
pubmed_id:12700346
[2]:
reference_text:Greter J, Lindstedt S, Steen G: 2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease. Clin Chem. 1983 Mar;29(3):434-7.
pubmed_id:6186413
[3]:
reference_text:Poulos A, Sharp P, Fellenberg AJ, Danks DM: Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. 1985;70(2):172-7.
pubmed_id:2408988
[4]:
reference_text:Poll-The BT, Saudubray JM, Ogier H, Schutgens RB, Wanders RJ, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW, et al.: Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis. 1986;9(2):169-74.
pubmed_id:2427795
[5]:
reference_text:Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit H: Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation. J Neurol Sci. 1987 Jan;77(1):87-96.
pubmed_id:2433405
4:
name:Peroxisomal disorders, new type, liver
omim_id:
[1]:
reference_text:Mandel H, Espeel M, Roels F, Sofer N, Luder A, Iancu TC, Aizin A, Berant M, Wanders RJ, Schutgens RB: A new type of peroxisomal disorder with variable expression in liver and fibroblasts. J Pediatr. 1994 Oct;125(4):549-55.
pubmed_id:7931872
[2]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
5:
name:Pyridoxine-dependent epilepsy
omim_id:266100
[1]:
reference_text:Kurlemann G, Ziegler R, Gruneberg M, Bomelburg T, Ullrich K, Palm DG: Disturbance of GABA metabolism in pyridoxine-dependent seizures. Neuropediatrics. 1992 Oct;23(5):257-9.
pubmed_id:1454145
[2]:
reference_text:Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W: Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 2007 Jan;28(1):19-26.
pubmed_id:17068770
6:
name:D-Bifunctional protein deficiency
omim_id:261515
[1]:
reference_text:Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7.
pubmed_id:2921319
[2]:
reference_text:Rizzo C, Boenzi S, Wanders RJ, Duran M, Caruso U, Dionisi-Vici C: Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. Pediatr Res. 2003 Jun;53(6):1013-8. doi: 10.1203/01.PDR.0000064902.59052.0F. Epub 2003 Mar 19.
pubmed_id:12646728
7:
name:Pseudoneonatal adrenoleukodystrophy
omim_id:264470
[1]:
reference_text:Poll-The BT, Roels F, Ogier H, Scotto J, Vamecq J, Schutgens RB, Wanders RJ, van Roermund CW, van Wijland MJ, Schram AW, et al.: A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet. 1988 Mar;42(3):422-34.
pubmed_id:2894756
8:
name:Traumatic brain injury
omim_id:
[1]:
reference_text:Smythe GA, Poljak A, Bustamante S, Braga O, Maxwell A, Grant R, Sachdev P: ECNI GC-MS analysis of picolinic and quinolinic acids and their amides in human plasma, CSF, and brain tissue. Adv Exp Med Biol. 2003;527:705-12.
pubmed_id:15206793
[2]:
reference_text:Bayir H, Kagan VE, Tyurina YY, Tyurin V, Ruppel RA, Adelson PD, Graham SH, Janesko K, Clark RS, Kochanek PM: Assessment of antioxidant reserves and oxidative stress in cerebrospinal fluid after severe traumatic brain injury in infants and children. Pediatr Res. 2002 May;51(5):571-8.
pubmed_id:11978879
[3]:
reference_text:Seki Y, Kimura M, Mizutani N, Fujita M, Aimi Y, Suzuki Y: Cerebrospinal fluid taurine after traumatic brain injury. Neurochem Res. 2005 Jan;30(1):123-8.
pubmed_id:15756940
[4]:
reference_text:Sachse KT, Jackson EK, Wisniewski SR, Gillespie DG, Puccio AM, Clark RS, Dixon CE, Kochanek PM: Increases in cerebrospinal fluid caffeine concentration are associated with favorable outcome after severe traumatic brain injury in humans. J Cereb Blood Flow Metab. 2008 Feb;28(2):395-401. Epub 2007 Aug 8.
pubmed_id:17684518
9:
name:Malaria
omim_id:248310
[1]:
reference_text:Akinyinka OO, Sowunmi A, Honeywell R, Renwick AG: The effects of acute falciparum malaria on the disposition of caffeine and the comparison of saliva and plasma-derived pharmacokinetic parameters in adult Nigerians. Eur J Clin Pharmacol. 2000 May;56(2):159-65.
pubmed_id:10877011
[2]:
reference_text:Medana IM, Hien TT, Day NP, Phu NH, Mai NT, Chu'ong LV, Chau TT, Taylor A, Salahifar H, Stocker R, Smythe G, Turner GD, Farrar J, White NJ, Hunt NH: The clinical significance of cerebrospinal fluid levels of kynurenine pathway metabolites and lactate in severe malaria. J Infect Dis. 2002 Mar 1;185(5):650-6. Epub 2002 Feb 14.
pubmed_id:11865422
[3]:
reference_text:Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9.
pubmed_id:12964115
[4]:
reference_text:Pukrittayakamee S, Pitisuttithum P, Zhang H, Jantra A, Wanwimolruk S, White NJ: Effects of cigarette smoking on quinine pharmacokinetics in malaria. Eur J Clin Pharmacol. 2002 Aug;58(5):315-9. Epub 2002 Jun 20.
pubmed_id:12185554
[5]:
reference_text:Agbenyega T, Angus B, Bedu-Addo G, Baffoe-Bonnie B, Griffin G, Vallance P, Krishna S: Plasma nitrogen oxides and blood lactate concentrations in Ghanaian children with malaria. Trans R Soc Trop Med Hyg. 1997 May-Jun;91(3):298-302.
pubmed_id:9231201
10:
name:Anemia
omim_id:
[1]:
reference_text:Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9.
pubmed_id:12964115
11:
name:Tuberculous meningitis
omim_id:
[1]:
reference_text:Rodriguez-Nunez A, Cid E, Rodriguez-Garcia J, Camina F, Rodriguez-Segade S, Castro-Gago M: Neuron-specific enolase, nucleotides, nucleosides, purine bases, oxypurines and uric acid concentrations in cerebrospinal fluid of children with meningitis. Brain Dev. 2003 Mar;25(2):102-6.
pubmed_id:12581805
[2]:
reference_text:Qureshi GA, Baig SM, Bednar I, Halawa A, Parvez SH: The neurochemical markers in cerebrospinal fluid to differentiate between aseptic and tuberculous meningitis. Neurochem Int. 1998 Feb;32(2):197-203.
pubmed_id:9542731
[3]:
reference_text:Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25.
pubmed_id:15627241
[4]:
reference_text:French GL, Teoh R, Chan CY, Humphries MJ, Cheung SW, O'Mahony G: Diagnosis of tuberculous meningitis by detection of tuberculostearic acid in cerebrospinal fluid. Lancet. 1987 Jul 18;2(8551):117-9.
pubmed_id:2885596
[5]:
reference_text:Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9.
pubmed_id:12964115
12:
name:Convulsion
omim_id:
[1]:
reference_text:Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9.
pubmed_id:12964115
[2]:
reference_text:Cotton MF, Donald PR, Aalbers C: Arginine vasopressin concentrations in the cerebrospinal fluid of children. Childs Nerv Syst. 1991 Nov;7(7):399-401.
pubmed_id:1794121
13:
name:Hyperlysinemia I, familial
omim_id:238700
[1]:
reference_text:Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Duenas B, Perez-Cerda C, Artuch R: Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6.
pubmed_id:23890588
14:
name:Hyperpipecolatemia
omim_id:
[1]:
reference_text:Gatfield PD, Taller E, Hinton GG, Wallace AC, Abdelnour GM, Haust MD: Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study. Can Med Assoc J. 1968 Dec 28;99(25):1215-33.
pubmed_id:5700850
15:
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]:
reference_text:Monleon D, Morales JM, Barrasa A, Lopez JA, Vazquez C, Celda B: Metabolite profiling of fecal water extracts from human colorectal cancer. NMR Biomed. 2009 Apr;22(3):342-8. doi: 10.1002/nbm.1345.
pubmed_id:19006102
[3]:
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pubmed_id:23940645
[4]:
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reference_text:Qiu Y, Cai G, Su M, Chen T, Zheng X, Xu Y, Ni Y, Zhao A, Xu LX, Cai S, Jia W: Serum metabolite profiling of human colorectal cancer using GC-TOFMS and UPLC-QTOFMS. J Proteome Res. 2009 Oct;8(10):4844-50. doi: 10.1021/pr9004162.
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reference_text:Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016.
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reference_text:Lin Y, Ma C, Liu C, Wang Z, Yang J, Liu X, Shen Z, Wu R: NMR-based fecal metabolomics fingerprinting as predictors of earlier diagnosis in patients with colorectal cancer. Oncotarget. 2016 May 17;7(20):29454-64. doi: 10.18632/oncotarget.8762.
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reference_text:Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016.
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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
16:
name:Perillyl alcohol administration for cancer treatment
omim_id:
[1]:
reference_text:Byun JA, Lee SH, Jung BH, Choi MH, Moon MH, Chung BC: Analysis of polyamines as carbamoyl derivatives in urine and serum by liquid chromatography-tandem mass spectrometry. Biomed Chromatogr. 2008 Jan;22(1):73-80.
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reference_text:Zheng YF, Kong HW, Xiong JH, Lv S, Xu GW: Clinical significance and prognostic value of urinary nucleosides in breast cancer patients. Clin Biochem. 2005 Jan;38(1):24-30.
pubmed_id:15607313
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reference_text:Zhang Z, Chen H, Chan KK, Budd T, Ganapathi R: Gas chromatographic-mass spectrometric analysis of perillyl alcohol and metabolites in plasma. J Chromatogr B Biomed Sci Appl. 1999 May 14;728(1):85-95.
pubmed_id:10379660
[5]:
reference_text:Grace PB, Mistry NS, Carter MH, Leathem AJ, Teale P: High throughput quantification of phytoestrogens in human urine and serum using liquid chromatography/tandem mass spectrometry (LC-MS/MS). J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Jun 15;853(1-2):138-46. Epub 2007 Mar 18.
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reference_text:Silva CL, Passos M, Camara JS: Solid phase microextraction, mass spectrometry and metabolomic approaches for detection of potential urinary cancer biomarkers--a powerful strategy for breast cancer diagnosis. Talanta. 2012 Jan 30;89:360-8. doi: 10.1016/j.talanta.2011.12.041. Epub 2011 Dec 22.
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pubmed_id:19010317
17:
name:Pancreatic cancer
omim_id:260350
[1]:
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pubmed_id:20300169
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reference_text:Zhang L, Jin H, Guo X, Yang Z, Zhao L, Tang S, Mo P, Wu K, Nie Y, Pan Y, Fan D: Distinguishing pancreatic cancer from chronic pancreatitis and healthy individuals by (1)H nuclear magnetic resonance-based metabonomic profiles. Clin Biochem. 2012 Sep;45(13-14):1064-9. doi: 10.1016/j.clinbiochem.2012.05.012. Epub 2012 May 19.
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reference_text:OuYang D, Xu J, Huang H, Chen Z: Metabolomic profiling of serum from human pancreatic cancer patients using 1H NMR spectroscopy and principal component analysis. Appl Biochem Biotechnol. 2011 Sep;165(1):148-54. doi: 10.1007/s12010-011-9240-0. Epub 2011 Apr 20.
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reference_text:Xie G, Lu L, Qiu Y, Ni Q, Zhang W, Gao YT, Risch HA, Yu H, Jia W: Plasma metabolite biomarkers for the detection of pancreatic cancer. J Proteome Res. 2015 Feb 6;14(2):1195-202. doi: 10.1021/pr501135f. Epub 2014 Dec 8.
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18:
name:Periodontal disease
omim_id:170650
[1]:
reference_text:Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10.
pubmed_id:20300169
19:
name:Periodontal Probing Depth
omim_id:
[1]:
reference_text:Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26.
pubmed_id:31026179
20:
name:Peroxisomal biogenesis defect
omim_id:214100
[1]:
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[2]:
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pubmed_id:2921319
[3]:
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[5]:
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pubmed_id:9818927
[6]:
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[7]:
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pubmed_id:7931872
[8]:
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[9]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
21:
name:Adrenoleukodystrophy
omim_id:300100
[1]:
reference_text:Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7.
pubmed_id:2921319
[2]:
reference_text:Poulos A, Sharp P, Fellenberg AJ, Danks DM: Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. 1985;70(2):172-7.
pubmed_id:2408988
[3]:
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