Jakobs C - Search Results

1

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

Kölker S, Hoffmann GF, Schor DS, Feyh P, Wagner L, Jeffrey I, Pourfarzam M, Okun JG, Zschocke J, Baric I, Bain MD, Jakobs C, Chalmers RA. Kölker S, et al. Among authors: jakobs c. Neuropediatrics. 2003 Jun;34(5):253-60. doi: 10.1055/s-2003-43261. Neuropediatrics. 2003. PMID: 14598231

2

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.

Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C. Gibson KM, et al. Among authors: jakobs c. Neuropediatrics. 1998 Feb;29(1):14-22. doi: 10.1055/s-2007-973527. Neuropediatrics. 1998. PMID: 9553943 Review.

3

D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity.

Wagner L, Hoffmann GF, Jakobs C. Wagner L, et al. Among authors: jakobs c. J Inherit Metab Dis. 1998 Jun;21(3):247-50. doi: 10.1023/a:1005364004746. J Inherit Metab Dis. 1998. PMID: 9686368 No abstract available.

4

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Muntau AC, et al. Among authors: jakobs c. Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. Neuropediatrics. 2000. PMID: 10963100

5

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).

Sauer SW, Kölker S, Hoffmann GF, Ten Brink HJ, Jakobs C, Gibson KM, Okun JG. Sauer SW, et al. Among authors: jakobs c. Neurochem Int. 2007 Mar;50(4):653-9. doi: 10.1016/j.neuint.2006.12.009. Epub 2007 Jan 13. Neurochem Int. 2007. PMID: 17303287

6

Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?

Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, Bremer HJ. Mayatepek E, et al. Among authors: jakobs c. Eur J Pediatr. 1996 May;155(5):398-403. doi: 10.1007/BF01955272. Eur J Pediatr. 1996. PMID: 8741039

7

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D. Wolf NI, et al. Among authors: jakobs c. J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e. J Inherit Metab Dis. 2004. PMID: 15243989

8

Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry.

Schor DS, Verhoeven NM, Struys EA, ten Brink HJ, Jakobs C. Schor DS, et al. Among authors: jakobs c. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Nov 15;780(1):199-204. doi: 10.1016/s1570-0232(02)00406-3. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12383496

9

Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS).

Gan-Schreier H, Okun JG, Kohlmueller D, Langhans CD, Peters V, Ten Brink HJ, Verhoeven NM, Jakobs C, Voelkl A, Hoffmann GF. Gan-Schreier H, et al. Among authors: jakobs c. J Mass Spectrom. 2005 Jul;40(7):882-9. doi: 10.1002/jms.864. J Mass Spectrom. 2005. PMID: 15892178

10

Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria.

Hoffmann GF, Jakobs C, Holmes B, Mitchell L, Becker G, Hartung HP, Nyhan WL. Hoffmann GF, et al. Among authors: jakobs c. J Inherit Metab Dis. 1995;18(2):189-93. doi: 10.1007/BF00711763. J Inherit Metab Dis. 1995. PMID: 7564243 No abstract available.

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