Jakobs C - Search Results

1

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.

2

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

Barth PG, Hoffmann GF, Jaeken J, Wanders RJ, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J, et al. Barth PG, et al. Among authors: jakobs c. J Inherit Metab Dis. 1993;16(4):753-61. doi: 10.1007/BF00711907. J Inherit Metab Dis. 1993. PMID: 8412018

3

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.

Wanders RJ, Vilarinho L, Hartung HP, Hoffmann GF, Mooijer PA, Jansen GA, Huijmans JG, de Klerk JB, ten Brink HJ, Jakobs C, Duran M. Wanders RJ, et al. Among authors: jakobs c. J Inherit Metab Dis. 1997 Sep;20(5):725-6. doi: 10.1023/a:1005355316599. J Inherit Metab Dis. 1997. PMID: 9323578 No abstract available.

4

D-2-hydroxyglutaric aciduria: further clinical delineation.

van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. van der Knaap MS, et al. Among authors: jakobs c. J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393. J Inherit Metab Dis. 1999. PMID: 10407777

5

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

6

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

7

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.

8

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

9

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.

10

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA. van der Knaap MS, et al. Among authors: jakobs c. Ann Neurol. 1999 Jan;45(1):111-9. doi: 10.1002/1531-8249(199901)45:1<111::aid-art17>3.0.co;2-n. Ann Neurol. 1999. PMID: 9894884

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