Hoffmann GF - 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: hoffmann gf. 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

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: hoffmann gf. J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e. J Inherit Metab Dis. 2004. PMID: 15243989

3

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. J Inherit Metab Dis. 1995;18(2):189-93. doi: 10.1007/BF00711763. J Inherit Metab Dis. 1995. PMID: 7564243 No abstract available.

4

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: hoffmann gf. J Inherit Metab Dis. 1993;16(4):753-61. doi: 10.1007/BF00711907. J Inherit Metab Dis. 1993. PMID: 8412018

5

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: hoffmann gf. 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.

6

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: hoffmann gf. J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393. J Inherit Metab Dis. 1999. PMID: 10407777

7

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.

Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF. Baric I, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1999 Dec;22(8):867-81. doi: 10.1023/a:1005683222187. J Inherit Metab Dis. 1999. PMID: 10604139 Clinical Trial.

8

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: hoffmann gf. Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. Neuropediatrics. 2000. PMID: 10963100

9

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS. Nota B, et al. Among authors: hoffmann gf. Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009. Am J Hum Genet. 2013. PMID: 23561848 Free PMC article.

10

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.

Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF. Bräutigam C, et al. Among authors: hoffmann gf. Neuropediatrics. 2002 Jun;33(3):113-7. doi: 10.1055/s-2002-33673. Neuropediatrics. 2002. PMID: 12200739

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