| GC-MS SpectraSpectrum Type | Description | Splash Key | Deposition Date | Source | View |
---|
Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS) | splash10-00dj-2900000000-0ef96bcf06ce475afcdd | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized) | splash10-00dj-1900000000-1d289099ac79cfb8bb19 | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS) | splash10-00di-7910000000-6c972a683dfb75b69331 | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-MS (2 TMS) | splash10-0udi-0900000000-ef69e38ee6cebc2ece00 | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-MS (3 TMS) | splash10-00di-2910000000-3215b9e40f20c7b306cd | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine EI-B (Non-derivatized) | splash10-001i-9000000000-719b7f248956f13a312d | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine EI-B (Non-derivatized) | splash10-0udi-0900000000-99b4fc43740b21edc786 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine EI-B (Non-derivatized) | splash10-00di-1910000000-4cff4d14c73acff9442f | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Non-derivatized) | splash10-00dj-2900000000-0ef96bcf06ce475afcdd | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Non-derivatized) | splash10-00dj-1900000000-1d289099ac79cfb8bb19 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-QQ (Non-derivatized) | splash10-0002-4960000000-2c6fa028e985c6019854 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Non-derivatized) | splash10-00di-7910000000-6c972a683dfb75b69331 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-MS (Non-derivatized) | splash10-00di-2910000000-3215b9e40f20c7b306cd | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-MS (Non-derivatized) | splash10-0udi-0900000000-ef69e38ee6cebc2ece00 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Non-derivatized) | splash10-00ds-2900000000-ffffed9c78c16a884e4a | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Non-derivatized) | splash10-004r-3900000000-f288b50b7b6890429811 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Glycine GC-EI-TOF (Non-derivatized) | splash10-0udi-1900000000-c76140c31c1f120e4b9d | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Glycine GC-MS (Non-derivatized) - 70eV, Positive | splash10-001i-9000000000-f0a2cfbefb9fcd9b6c3e | 2016-09-22 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Glycine GC-MS (1 TMS) - 70eV, Positive | splash10-00di-9300000000-b8bbfc1276d5adb1ba04 | 2017-10-06 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Glycine GC-MS (Non-derivatized) - 70eV, Positive | Not Available | 2021-10-12 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Glycine GC-MS (TMS_1_2) - 70eV, Positive | Not Available | 2021-11-05 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Glycine GC-MS (TBDMS_1_1) - 70eV, Positive | Not Available | 2021-11-05 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Glycine GC-MS (TBDMS_1_2) - 70eV, Positive | Not Available | 2021-11-05 | Wishart Lab | View Spectrum | MS | Mass Spectrum (Electron Ionization) | splash10-001i-9000000000-222d6c3a1ba6afcd7ea9 | 2014-09-20 | Not Available | View Spectrum |
MS/MS SpectraSpectrum Type | Description | Splash Key | Deposition Date | Source | View |
---|
Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine Quattro_QQQ 10V, Positive-QTOF (Annotated) | splash10-003r-9000000000-725357e461c898a7451e | 2012-07-24 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine Quattro_QQQ 25V, Positive-QTOF (Annotated) | splash10-001i-9000000000-9f3930e66b117ad91dca | 2012-07-24 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine Quattro_QQQ 40V, Positive-QTOF (Annotated) | splash10-001i-9000000000-b3336097dddbb5e22871 | 2012-07-24 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine EI-B (HITACHI RMU-6M) , Positive-QTOF | splash10-001i-9000000000-719b7f248956f13a312d | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 10V, Negative-QTOF | splash10-00di-9000000000-6001578fc511ba3fefef | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 20V, Negative-QTOF | splash10-00di-9000000000-79b2a0a9d93de6a62358 | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 30V, Negative-QTOF | splash10-00di-9000000000-9290dbe208c4744f4431 | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 10V, Positive-QTOF | splash10-004i-9000000000-342ab462db0835abb3d2 | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 20V, Positive-QTOF | splash10-0ar1-9010000000-9daadc1d169a8530926d | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 30V, Positive-QTOF | splash10-07y0-9220000000-8c7785f1f3aa8052679f | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 40V, Positive-QTOF | splash10-0ula-9110000000-43ada06fe1b56b4e9fcc | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ (API3000, Applied Biosystems) 50V, Positive-QTOF | splash10-017i-9000000000-fbd78fbb48f082235f42 | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine CE-ESI-TOF (CE-system connected to 6210 Time-of-Flight MS, Agilent) , Positive-QTOF | splash10-004i-9000000000-c38d0fb28793438083a9 | 2012-08-31 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine DI-ESI-Q-Exactive Plus , Positive-QTOF | splash10-004i-9000000000-18a7ae48c7b0e15cdf18 | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ , negative-QTOF | splash10-00di-9000000000-6001578fc511ba3fefef | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ , negative-QTOF | splash10-00di-9000000000-79b2a0a9d93de6a62358 | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ , negative-QTOF | splash10-00di-9000000000-9290dbe208c4744f4431 | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine , negative-QTOF | splash10-00di-9000000000-605b44ac311a9af4bb7a | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Glycine LC-ESI-QQ , positive-QTOF | splash10-004i-9000000000-342ab462db0835abb3d2 | 2017-09-14 | HMDB team, MONA | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Glycine 10V, Positive-QTOF | splash10-0059-9000000000-c6b1ebc1dba89b6a6184 | 2015-04-24 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Glycine 20V, Positive-QTOF | splash10-001i-9000000000-851aa6a0263541a8b249 | 2015-04-24 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Glycine 40V, Positive-QTOF | splash10-053r-9000000000-d3b5624412082bb2cf60 | 2015-04-24 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Glycine 10V, Negative-QTOF | splash10-00di-9000000000-89b2c043a5afe3ebc6f6 | 2015-04-25 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Glycine 20V, Negative-QTOF | splash10-00di-9000000000-b4046e208ee8adb87021 | 2015-04-25 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Glycine 40V, Negative-QTOF | splash10-05fr-9000000000-36521e440c602bd2ca5a | 2015-04-25 | 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 | 13C NMR Spectrum (1D, 100 MHz, D2O, predicted) | 2021-09-29 | 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, 1000 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, 200 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, 300 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, 400 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, 500 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, 600 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, 700 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, 800 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 | Predicted 1D NMR | 13C NMR Spectrum (1D, 900 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Predicted 1D NMR | 1H NMR Spectrum (1D, 900 MHz, D2O, predicted) | 2021-09-29 | Wishart Lab | View Spectrum | Experimental 2D NMR | [1H, 13C]-HSQC NMR Spectrum (2D, 600 MHz, H2O, experimental) | 2012-12-04 | Wishart Lab | View Spectrum |
IR SpectraSpectrum Type | Description | Deposition Date | Source | View |
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Predicted IR Spectrum | IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M-H]-) | 2023-02-03 | FELIX lab | View Spectrum | Predicted IR Spectrum | IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M+H]+) | 2023-02-03 | FELIX lab | View Spectrum | Predicted IR Spectrum | IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M+Na]+) | 2023-02-03 | FELIX lab | View Spectrum |
| Show more...
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Disease References | D-Glyceric acidemia |
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- Boneh A, Degani Y, Harari M: Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia. Pediatr Neurol. 1996 Sep;15(2):137-41. [PubMed:8888048 ]
- Brandt NJ, Brandt S, Rasmussen K, Schnoheyder F: Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. Br Med J. 1974 Nov 9;4(5940):344. [PubMed:4434100 ]
- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
| Refractory localization-related epilepsy |
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- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed:14992292 ]
| Juvenile myoclonic epilepsy |
---|
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed:14992292 ]
| Alzheimer's disease |
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- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed:17031479 ]
- 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 ]
| D-Glyceric acidura |
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- Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO: d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. Mol Genet Metab. 2017 Jun;121(2):80-82. doi: 10.1016/j.ymgme.2017.04.009. Epub 2017 Apr 20. [PubMed:28462797 ]
- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
| Early preeclampsia |
---|
- 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 ]
| 3-Methyl-crotonyl-glycinuria |
---|
- Rutledge SL, Berry GT, Stanley CA, van Hove JL, Millington D: Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 1995;18(3):299-305. [PubMed:7474896 ]
| Sarcosinemia |
---|
- Sewell AC, Krille M, Wilhelm I: Sarcosinaemia in a retarded, amaurotic child. Eur J Pediatr. 1986 Feb;144(5):508-10. [PubMed:2420598 ]
- Benarrosh A, Garnotel R, Henry A, Arndt C, Gillery P, Motte J, Bakchine S: A young adult with sarcosinemia. No benefit from long duration treatment with memantine. JIMD Rep. 2013;9:93-96. doi: 10.1007/8904_2012_185. Epub 2012 Oct 21. [PubMed:23430553 ]
| N-acetylglutamate synthetase deficiency |
---|
- Schubiger G, Bachmann C, Barben P, Colombo JP, Tonz O, Schupbach D: N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. Eur J Pediatr. 1991 Mar;150(5):353-6. [PubMed:2044610 ]
| Histidinemia |
---|
- Nyhan WL, Hilton S: Histidinuria: defective transport of histidine. Am J Med Genet. 1992 Nov 15;44(5):558-61. [PubMed:1481808 ]
| Obesity |
---|
- Simone Wahl, Christina Holzapfel, Zhonghao Yu, Michaela Breier, Ivan Kondofersky, Christiane Fuchs, Paula Singmann, Cornelia Prehn, Jerzy Adamski, Harald Grallert, Thomas Illig, Rui Wang-Sattler, Thomas Reinehr (2013). Metabolomics reveals determinants of weight loss during lifestyle intervention in obese children. Metabolomics.
| Neu-Laxova Syndrome 1 |
---|
- Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS: Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 2014 Jun 5;94(6):898-904. doi: 10.1016/j.ajhg.2014.04.015. Epub 2014 May 15. [PubMed:24836451 ]
- El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS: On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis. 2016 May;39(3):373-381. doi: 10.1007/s10545-016-9921-5. Epub 2016 Mar 10. [PubMed:26960553 ]
| Hyperglycinemia, lactic acidosis, and seizures |
---|
- Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W: Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet. 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. [PubMed:22152680 ]
| Pyridoxamine 5-prime-phosphate oxidase deficiency |
---|
- 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:17068770 ]
| Lipoyltransferase 1 Deficiency |
---|
- 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 ]
| Phosphoserine Aminotransferase Deficiency |
---|
- Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E: Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet. 2007 May;80(5):931-7. Epub 2007 Mar 30. [PubMed:17436247 ]
| Phosphoserine Phosphatase Deficiency |
---|
- Jaeken J, Detheux M, Van Maldergem L, Frijns JP, Alliet P, Foulon M, Carchon H, Van Schaftingen E: 3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis. J Inherit Metab Dis. 1996;19(2):223-6. [PubMed:8739971 ]
| Leukemia |
---|
- Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed:15911239 ]
| Schizophrenia |
---|
- 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:7595563 ]
- 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:22007635 ]
- 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:22800120 ]
| Nonketotic Hyperglycinemia |
---|
- Applegarth DA, Toone JR: Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab. 2001 Sep-Oct;74(1-2):139-46. [PubMed:11592811 ]
| 3-Phosphoglycerate dehydrogenase deficiency |
---|
- Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, de Koning TJ: Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. J Inherit Metab Dis. 2011 Feb;34(1):181-4. doi: 10.1007/s10545-010-9249-5. Epub 2010 Nov 27. [PubMed:21113737 ]
| Epilepsy, early-onset, vitamin B6-dependent |
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| Irritable bowel syndrome |
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| Ulcerative colitis |
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| Autism |
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- De Angelis M, Piccolo M, Vannini L, Siragusa S, De Giacomo A, Serrazzanetti DI, Cristofori F, Guerzoni ME, Gobbetti M, Francavilla R: Fecal microbiota and metabolome of children with autism and pervasive developmental disorder not otherwise specified. PLoS One. 2013 Oct 9;8(10):e76993. doi: 10.1371/journal.pone.0076993. eCollection 2013. [PubMed:24130822 ]
| Crohn's disease |
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- Bjerrum JT, Wang Y, Hao F, Coskun M, Ludwig C, Gunther U, Nielsen OH: Metabonomics of human fecal extracts characterize ulcerative colitis, Crohn's disease and healthy individuals. Metabolomics. 2015;11:122-133. Epub 2014 Jun 1. [PubMed:25598765 ]
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| Diverticular disease |
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| Gout |
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| Perillyl alcohol administration for cancer treatment |
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| Pancreatic cancer |
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| Periodontal disease |
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| Frontotemporal dementia |
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| Lewy body disease |
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| Lung Cancer |
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| Carbamoyl Phosphate Synthetase Deficiency |
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| Iminoglycinuria |
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| Autosomal dominant polycystic kidney disease |
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| Argininosuccinic aciduria |
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| Propionic acidemia |
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- Gronwald W, Klein MS, Kaspar H, Fagerer SR, Nurnberger N, Dettmer K, Bertsch T, Oefner PJ: Urinary metabolite quantification employing 2D NMR spectroscopy. Anal Chem. 2008 Dec 1;80(23):9288-97. doi: 10.1021/ac801627c. [PubMed:19551947 ]
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| Tyrosinemia I |
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| Phenylketonuria |
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- Gronwald W, Klein MS, Kaspar H, Fagerer SR, Nurnberger N, Dettmer K, Bertsch T, Oefner PJ: Urinary metabolite quantification employing 2D NMR spectroscopy. Anal Chem. 2008 Dec 1;80(23):9288-97. doi: 10.1021/ac801627c. [PubMed:19551947 ]
| Maple syrup urine disease |
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| Eosinophilic esophagitis |
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| Glucoglycinuria |
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