Zschocke J - Search Results

1

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.

Sass JO, Sander S, Zschocke J. Sass JO, et al. Among authors: zschocke j. J Inherit Metab Dis. 2004;27(6):741-5. doi: 10.1023/B:BOLI.0000045798.12425.1b. J Inherit Metab Dis. 2004. PMID: 15505379

2

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.

3

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.

4

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

Lässker U, Zschocke J, Blau N, Santer R. Lässker U, et al. Among authors: zschocke j. J Inherit Metab Dis. 2002 Feb;25(1):65-70. doi: 10.1023/a:1015194002487. J Inherit Metab Dis. 2002. PMID: 11999982 Review.

5

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ. Ofman R, et al. Among authors: zschocke j. Am J Hum Genet. 2003 May;72(5):1300-7. doi: 10.1086/375116. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696021 Free PMC article.

6

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

Christensen E, Ribes A, Merinero B, Zschocke J. Christensen E, et al. Among authors: zschocke j. J Inherit Metab Dis. 2004;27(6):861-8. doi: 10.1023/B:BOLI.0000045770.93429.3c. J Inherit Metab Dis. 2004. PMID: 15505393

7

Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.

Burlina AP, Zara G, Hoffmann GF, Zschocke J, Burlina AB. Burlina AP, et al. Among authors: zschocke j. J Inherit Metab Dis. 2004;27(6):911-5. doi: 10.1023/B:BOLI.0000045776.50573.52. J Inherit Metab Dis. 2004. PMID: 15505399

8

Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.

Haas D, Armbrust S, Haas JP, Zschocke J, Mühlmann K, Fusch C, Neumann LM. Haas D, et al. Among authors: zschocke j. J Inherit Metab Dis. 2005;28(6):1191-6. doi: 10.1007/s10545-005-0168-9. J Inherit Metab Dis. 2005. PMID: 16435228

9

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J. Sass JO, et al. Among authors: zschocke j. Mol Genet Metab. 2008 Jan;93(1):30-5. doi: 10.1016/j.ymgme.2007.09.002. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17945527

10

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: zschocke j. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. J Inherit Metab Dis. 2009. PMID: 19399638

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