Hoffmann GF - Search Results

1

Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?

Assmann B, Hoffmann GF, Wagner L, Bräutigam C, Seyberth HW, Duran M, Van Kuilenburg AB, Wevers R, Van Gennip AH. Assmann B, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1997 Sep;20(5):681-8. doi: 10.1023/a:1005374426168. J Inherit Metab Dis. 1997. PMID: 9323563

2

Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.

Van Kuilenburg AB, Van Lenthe H, Assmann B, Göhlich-Ratmann G, Hoffmann GF, Bräutigam C, Wevers RA, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2001 Dec;24(7):725-32. doi: 10.1023/a:1012997406132. J Inherit Metab Dis. 2001. PMID: 11804209

3

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC. van Kuilenburg AB, et al. Among authors: hoffmann gf. Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1. Biochim Biophys Acta. 2010. PMID: 20362666 Free article.

4

Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.

van Kuilenburg AB, van Lenthe H, Ratmann GG, Assmann B, Hoffmann GF, Brautigam C, van Gennip AH. van Kuilenburg AB, et al. Among authors: hoffmann gf. Adv Exp Med Biol. 2000;486:243-6. doi: 10.1007/0-306-46843-3_47. Adv Exp Med Biol. 2000. PMID: 11783492 No abstract available.

5

Neurotransmitter metabolites in CSF: an external quality control scheme.

Bräutigam C, Weykamp C, Hoffmann GF, Wevers RA. Bräutigam C, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2002 Aug;25(4):287-98. doi: 10.1023/a:1016550324235. J Inherit Metab Dis. 2002. PMID: 12227459

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: 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

7

Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.

Kölker S, Burgard P, Okun JG, Schulze-Bergkamen A, Assmann B, Greenberg CR, Hoffmann GF. Kölker S, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2004;27(6):921-6. doi: 10.1023/B:BOLI.0000045778.73581.7d. J Inherit Metab Dis. 2004. PMID: 15505401 Review.

8

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.

Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Assmann B, et al. Among authors: hoffmann gf. Neuropediatrics. 2006 Feb;37(1):20-5. doi: 10.1055/s-2006-923933. Neuropediatrics. 2006. PMID: 16541364

9

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.

Hoffmann GF, Böhles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting FK, Superti-Furga A, et al. Hoffmann GF, et al. J Inherit Metab Dis. 1995;18(2):173-6. doi: 10.1007/BF00711759. J Inherit Metab Dis. 1995. PMID: 7564239 No abstract available.

10

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.

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