Jakobs C - Search Results

1

4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM. Medina-Kauwe LK, et al. Among authors: jakobs c. J Inherit Metab Dis. 1999 Jun;22(4):414-27. doi: 10.1023/a:1005500122231. J Inherit Metab Dis. 1999. PMID: 10407778 Review.

2

Inherited disorders of GABA metabolism.

Jakobs C, Jaeken J, Gibson KM. Jakobs C, et al. J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902. J Inherit Metab Dis. 1993. PMID: 8412016 Review.

3

Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.

Struys EA, Jansen EE, Gibson KM, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Inherit Metab Dis. 2005;28(6):913-20. doi: 10.1007/s10545-005-0111-0. J Inherit Metab Dis. 2005. PMID: 16435183

4

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Knerr I, et al. Among authors: jakobs c. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693

5

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

Gibson KM, Baumann C, Ogier H, Rossier E, Vollmer B, Jakobs C. Gibson KM, et al. Among authors: jakobs c. J Inherit Metab Dis. 1994;17(6):732-7. doi: 10.1007/BF00712016. J Inherit Metab Dis. 1994. PMID: 7707697

6

L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.

Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovich AJ, Cox VA, Packman S. Chen E, et al. Among authors: jakobs c. J Inherit Metab Dis. 1996;19(3):335-43. doi: 10.1007/BF01799264. J Inherit Metab Dis. 1996. PMID: 8803777

7

Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

Struys EA, Gibson KM, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Inherit Metab Dis. 2007 Oct;30(5):690-3. doi: 10.1007/s10545-007-0697-5. Epub 2007 Sep 17. J Inherit Metab Dis. 2007. PMID: 17876720

8

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Pearl PL, et al. Among authors: jakobs c. J Inherit Metab Dis. 2009 Jun;32(3):343-52. doi: 10.1007/s10545-009-1034-y. Epub 2009 Jan 28. J Inherit Metab Dis. 2009. PMID: 19172412 Free PMC article. Review.

9

Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.

Wickenhagen WV, Salomons GS, Gibson KM, Jakobs C, Struys EA. Wickenhagen WV, et al. Among authors: jakobs c. J Inherit Metab Dis. 2009 Apr;32(2):264-8. doi: 10.1007/s10545-009-1104-1. Epub 2009 Mar 13. J Inherit Metab Dis. 2009. PMID: 19283509

10

Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Jakobs C, Sweetman L, Nyhan WL, Packman S. Jakobs C, et al. J Inherit Metab Dis. 1984;7(1):15-20. doi: 10.1007/BF01805614. J Inherit Metab Dis. 1984. PMID: 6429435

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