| GC-MS SpectraSpectrum Type | Description | Splash Key | Deposition Date | Source | View |
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Experimental GC-MS | GC-MS Spectrum - Pyruvic acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized) | splash10-00dr-4900000000-f26ef76666e40ab9fe61 | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Pyruvic acid GC-MS (1 MEOX; 1 TMS) | splash10-00di-5900000000-b8e81f82572d4796e944 | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Pyruvic acid GC-MS (2 TMS) | splash10-014i-5970000000-154bf9ad168a12593fcc | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Pyruvic acid EI-B (Non-derivatized) | splash10-0006-9000000000-a2cf85a5e1d2379d26df | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Pyruvic acid GC-EI-TOF (Non-derivatized) | splash10-00dr-4900000000-f26ef76666e40ab9fe61 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Pyruvic acid GC-MS (Non-derivatized) | splash10-00di-5900000000-b8e81f82572d4796e944 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Pyruvic acid GC-MS (Non-derivatized) | splash10-014i-5970000000-154bf9ad168a12593fcc | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Pyruvic acid GC-EI-TOF (Non-derivatized) | splash10-00dr-5900000000-5b1f470d4ff91420618c | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Pyruvic acid GC-MS (Non-derivatized) - 70eV, Positive | splash10-0006-9000000000-5417b44aa241a7ba27e8 | 2016-09-22 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Pyruvic acid GC-MS (1 TMS) - 70eV, Positive | splash10-00dm-9400000000-6db65a709bdc47e3adf7 | 2017-10-06 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Pyruvic acid GC-MS (Non-derivatized) - 70eV, Positive | Not Available | 2021-10-12 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Pyruvic acid GC-MS (Non-derivatized) - 70eV, Positive | Not Available | 2021-10-12 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Pyruvic acid GC-MS (TMS_1_2) - 70eV, Positive | Not Available | 2021-11-05 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Pyruvic acid GC-MS (TBDMS_1_1) - 70eV, Positive | Not Available | 2021-11-05 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Pyruvic acid GC-MS (TBDMS_1_2) - 70eV, Positive | Not Available | 2021-11-05 | Wishart Lab | View Spectrum | MS | Mass Spectrum (Electron Ionization) | splash10-0006-9000000000-f315d0752893e7d0c657 | 2014-09-20 | Not Available | View Spectrum |
MS/MS SpectraSpectrum Type | Description | Splash Key | Deposition Date | Source | View |
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Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid EI-B (HITACHI M-80B) , Positive-QTOF | splash10-0006-9000000000-a2cf85a5e1d2379d26df | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ (API3000, Applied Biosystems) 10V, Negative-QTOF | splash10-000i-9000000000-dd49835da8355fb6e625 | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ (API3000, Applied Biosystems) 20V, Negative-QTOF | splash10-000i-9000000000-f09d8e3d7a774b255d89 | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ (API3000, Applied Biosystems) 30V, Negative-QTOF | splash10-0006-9000000000-7d91f6f626cab1a366fd | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ (API3000, Applied Biosystems) 40V, Negative-QTOF | splash10-0006-9000000000-8ae98cdb3e142034e52a | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ (API3000, Applied Biosystems) 50V, Negative-QTOF | splash10-0006-9000000000-e04e6c68013983e1b6dc | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ , negative-QTOF | splash10-000i-9000000000-dd49835da8355fb6e625 | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ , negative-QTOF | splash10-000i-9000000000-f09d8e3d7a774b255d89 | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ , negative-QTOF | splash10-0006-9000000000-7d91f6f626cab1a366fd | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ , negative-QTOF | splash10-0006-9000000000-8ae98cdb3e142034e52a | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid LC-ESI-QQ , negative-QTOF | splash10-0006-9000000000-e04e6c68013983e1b6dc | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid 10V, Negative-QTOF | splash10-000f-9000000000-f24c93ecfd3928827154 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid 40V, Negative-QTOF | splash10-0udj-9000000000-fc3b9ad0c57f44261fba | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid 20V, Negative-QTOF | splash10-014i-9000000000-f3444f8b94ee5a0a9f74 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid 33V, Negative-QTOF | splash10-0avr-9000000000-dc40a6a1b9b166d6e68a | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Pyruvic acid 33V, Negative-QTOF | splash10-016r-9000000000-efac7b176bb77118ecb8 | 2021-09-20 | HMDB team, MONA | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 10V, Positive-QTOF | splash10-000i-9000000000-d0defa72b09503c6d6d1 | 2016-09-12 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 20V, Positive-QTOF | splash10-000f-9000000000-c25fa150e9c490319a2a | 2016-09-12 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 40V, Positive-QTOF | splash10-0006-9000000000-ccb42b4c05ddd001990f | 2016-09-12 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 10V, Negative-QTOF | splash10-000i-9000000000-faf36ff70d6205370270 | 2016-09-12 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 20V, Negative-QTOF | splash10-000i-9000000000-60c1a02aabf80f51050f | 2016-09-12 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 40V, Negative-QTOF | splash10-000f-9000000000-ca5f4a2f06787d8b62a0 | 2016-09-12 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 10V, Positive-QTOF | splash10-0006-9000000000-0eb1fb2cdd24bdc78601 | 2021-09-22 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 20V, Positive-QTOF | splash10-0006-9000000000-87bbaed151efac084591 | 2021-09-22 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Pyruvic acid 40V, Positive-QTOF | splash10-0006-9000000000-87bbaed151efac084591 | 2021-09-22 | Wishart Lab | View Spectrum |
NMR SpectraSpectrum Type | Description | Deposition Date | Source | View |
---|
Experimental 1D NMR | 1H NMR Spectrum (1D, 500 MHz, H2O, experimental) | 2012-12-04 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 100 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 100 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 1000 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 1000 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 200 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 200 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 300 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 300 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 400 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 400 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 500 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 500 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 600 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 600 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 700 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 700 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 800 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Experimental 2D NMR | [1H, 13C]-HSQC NMR Spectrum (2D, 600 MHz, H2O, experimental) | 2012-12-05 | Wishart Lab | View Spectrum |
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Disease References | 3-methylglutaconic aciduria type II, X-linked |
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- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
| Colorectal cancer |
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- 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. [PubMed:19678709 ]
- 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:25105552 ]
- 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. [PubMed:27015276 ]
- 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. [PubMed:25037050 ]
| Stomach cancer |
---|
- 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:21773981 ]
| Schizophrenia |
---|
- 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:22024767 ]
| Early preeclampsia |
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- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
| Pregnancy |
---|
- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester Down syndrome prediction. Am J Obstet Gynecol. 2013 May;208(5):371.e1-8. doi: 10.1016/j.ajog.2012.12.035. Epub 2013 Jan 8. [PubMed:23313728 ]
- Bahado-Singh RO, Akolekar R, Chelliah A, Mandal R, Dong E, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester trisomy 18 detection. Am J Obstet Gynecol. 2013 Jul;209(1):65.e1-9. doi: 10.1016/j.ajog.2013.03.028. Epub 2013 Mar 25. [PubMed:23535240 ]
- Bahado-Singh RO, Ertl R, Mandal R, Bjorndahl TC, Syngelaki A, Han B, Dong E, Liu PB, Alpay-Savasan Z, Wishart DS, Nicolaides KH: Metabolomic prediction of fetal congenital heart defect in the first trimester. Am J Obstet Gynecol. 2014 Sep;211(3):240.e1-240.e14. doi: 10.1016/j.ajog.2014.03.056. Epub 2014 Apr 1. [PubMed:24704061 ]
| Late-onset preeclampsia |
---|
- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
| Glucagon deficiency |
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- Vidnes J, Oyasaeter S: Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion. Pediatr Res. 1977 Sep;11(9 Pt 1):943-9. [PubMed:904979 ]
| 2-Ketoglutarate dehydrogenase complex deficiency |
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- Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr. 1992 Aug;121(2):255-8. [PubMed:1640293 ]
- Kohlschutter A, Behbehani A, Langenbeck U, Albani M, Heidemann P, Hoffmann G, Kleineke J, Lehnert W, Wendel U: A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Eur J Pediatr. 1982 Feb;138(1):32-7. [PubMed:7075624 ]
- Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P: 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case. J Inherit Metab Dis. 1993;16(5):821-30. [PubMed:8295396 ]
| 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency |
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- 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:1886403 ]
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency |
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- 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:9727719 ]
| Leigh's syndrome, subacute necrotizing encephalopathy, SNE |
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- Hommes FA, Polman HA, Reerink JD: Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child. 1968 Aug;43(230):423-6. [PubMed:4873809 ]
| Myopathy with lactic acidosis, hereditary |
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- LARSSON LE, LINDERHOLM H, MUELLER R, RINGQVIST T, SOERNAES R: HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS. J Neurol Neurosurg Psychiatry. 1964 Oct;27:361-80. [PubMed:14213465 ]
| Fructose-1,6-diphosphatase deficiency |
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- Pagliara AS, Karl IE, Keating JP, Brown BI, Kipnis DM: Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. J Clin Invest. 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018. [PubMed:4341015 ]
| Mitochondrial pyruvate carrier deficiency |
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- Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM: Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. Mol Genet Metab. 2003 Mar;78(3):186-92. [PubMed:12649063 ]
| Pyruvate dehydrogenase deficiency (E1) |
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- Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW: The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. [PubMed:22079328 ]
| Pyruvate dehydrogenase deficiency |
---|
- Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW: The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. [PubMed:22079328 ]
| Pyruvate dehydrogenase phosphatase deficiency |
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- Robinson BH, Sherwood WG: Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy. Pediatr Res. 1975 Dec;9(12):935-9. doi: 10.1203/00006450-197512000-00015. [PubMed:172850 ]
| Dihydrolipoamide Dehydrogenase Deficiency |
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- Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, Matsumoto I: Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency. Clin Chim Acta. 1983 Sep 30;133(2):133-40. [PubMed:6688766 ]
| Lipoyltransferase 1 Deficiency |
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- Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P: Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192. [PubMed:24341803 ]
| GRACILE syndrome |
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- Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L: GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76. Epub 2002 Sep 5. [PubMed:12215968 ]
| Anoxia |
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- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed:8579834 ]
| Meningitis |
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- 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:15627241 ]
| 3-Methyl-crotonyl-glycinuria |
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- 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:11893004 ]
| Fumarase deficiency |
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- Tregoning S, Salter W, Thorburn DR, Durkie M, Panayi M, Wu JY, Easterbrook A, Coman DJ: Fumarase deficiency in dichorionic diamniotic twins. Twin Res Hum Genet. 2013 Dec;16(6):1117-20. doi: 10.1017/thg.2013.72. Epub 2013 Nov 4. [PubMed:24182348 ]
| Irritable bowel syndrome |
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- Hong YS, Hong KS, Park MH, Ahn YT, Lee JH, Huh CS, Lee J, Kim IK, Hwang GS, Kim JS: Metabonomic understanding of probiotic effects in humans with irritable bowel syndrome. J Clin Gastroenterol. 2011 May-Jun;45(5):415-25. doi: 10.1097/MCG.0b013e318207f76c. [PubMed:21494186 ]
| Alzheimer's disease |
---|
- Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
| Frontotemporal dementia |
---|
- Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
| Lewy body disease |
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- Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
| Diabetes mellitus type 1 |
---|
- (). Lorena Ivona ŞTEFAN, Alina NICOLESCU, Simona POPA, Maria MOŢA, Eugenia KOVACS and Calin DELEANU. 1H-NMR URINE METABOLIC PROFILING IN TYPE 1 DIABETES MELLITUS. Rev. Roum. Chim., 2010, 55(11-12), 1033-1037 . .
| Eosinophilic esophagitis |
---|
- Slae, M., Huynh, H., Wishart, D.S. (2014). Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work). NA.
| Pearson Syndrome |
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- Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N: Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. [PubMed:25691415 ]
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General References | - Tsuchiya H, Hashizume I, Tokunaga T, Tatsumi M, Takagi N, Hayashi T: High-performance liquid chromatography of alpha-keto acids in human saliva. Arch Oral Biol. 1983;28(11):989-92. [PubMed:6581765 ]
- Guneral F, Bachmann C: Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem. 1994 Jun;40(6):862-6. [PubMed:8087979 ]
- Hoffmann GF, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan WL: Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993;16(4):648-69. [PubMed:8412012 ]
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