Zschocke J - Search Results

1

Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

Liesert M, Zschocke J, Hoffmann GF, Mühlhäuser N, Buckel W. Liesert M, et al. Among authors: zschocke j. J Inherit Metab Dis. 1999 May;22(3):256-8. doi: 10.1023/a:1005525903207. J Inherit Metab Dis. 1999. PMID: 10384381 No abstract available.

2

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Hoffmann GF, et al. Among authors: zschocke j. Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. Neuropediatrics. 1996. PMID: 8837070

3

Diagnosis and management of glutaric aciduria type I.

Barić I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF. Barić I, et al. Among authors: zschocke j. J Inherit Metab Dis. 1998 Jun;21(4):326-40. doi: 10.1023/a:1005390105171. J Inherit Metab Dis. 1998. PMID: 9700590 Review.

4

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.

Nyhan WL, Zschocke J, Hoffmann G, Stein DE, Bao L, Goodman S. Nyhan WL, et al. Among authors: zschocke j. Mol Genet Metab. 1999 Mar;66(3):199-204. doi: 10.1006/mgme.1998.2794. Mol Genet Metab. 1999. PMID: 10066389

5

Phenylketonuria mutations in Germany.

Zschocke J, Hoffmann GF. Zschocke J, et al. Hum Genet. 1999 May;104(5):390-8. doi: 10.1007/s004390050973. Hum Genet. 1999. PMID: 10394930

6

Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.

Hoffmann GF, Zschocke J. Hoffmann GF, et al. Among authors: zschocke j. J Inherit Metab Dis. 1999 Jun;22(4):381-91. doi: 10.1023/a:1005543904484. J Inherit Metab Dis. 1999. PMID: 10407775 Review.

7

Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.

Zschocke J, Quak E, Knauer A, Fritz B, Aslan M, Hoffmann GF. Zschocke J, et al. J Inherit Metab Dis. 1999 Aug;22(6):687-92. doi: 10.1023/a:1005527731397. J Inherit Metab Dis. 1999. PMID: 10472529

8

Mild trimethylaminuria caused by common variants in FMO3 gene.

Zschocke J, Kohlmueller D, Quak E, Meissner T, Hoffmann GF, Mayatepek E. Zschocke J, et al. Lancet. 1999 Sep 4;354(9181):834-5. doi: 10.1016/s0140-6736(99)80019-1. Lancet. 1999. PMID: 10485731

9

Urinary excretion of Krebs cycle metabolites in a 13-year-old girl.

Zschocke J, Koch G, Hoffmann GF. Zschocke J, et al. J Inherit Metab Dis. 1999 Dec;22(8):945. doi: 10.1023/a:1005612112618. J Inherit Metab Dis. 1999. PMID: 10604152 No abstract available.

10

Mutation analysis in glutaric aciduria type I.

Zschocke J, Quak E, Guldberg P, Hoffmann GF. Zschocke J, et al. J Med Genet. 2000 Mar;37(3):177-81. doi: 10.1136/jmg.37.3.177. J Med Genet. 2000. PMID: 10699052 Free PMC article.

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