Zschocke J - Search Results

1

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: zschocke j. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216

2

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT. Mills PB, et al. Among authors: zschocke j. Hum Mol Genet. 2005 Apr 15;14(8):1077-86. doi: 10.1093/hmg/ddi120. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772097

3

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

4

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.

Chalmers RA, Bain MD, Zschocke J. Chalmers RA, et al. Among authors: zschocke j. Mol Genet Metab. 2006 May;88(1):29-37. doi: 10.1016/j.ymgme.2005.11.007. Mol Genet Metab. 2006. PMID: 16377226

5

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: zschocke j. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220

6

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J. Hoffmann GF, et al. Among authors: zschocke j. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. J Inherit Metab Dis. 2007. PMID: 17216302

7

Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?

Elsaid MF, Bener A, Lindner M, Alzyoud M, Shahbek N, Abdelrahman MO, Abdoh G, Bessisso MS, Zschocke J, Hoffmann GF. Elsaid MF, et al. Among authors: zschocke j. Mol Genet Metab. 2007 Sep-Oct;92(1-2):100-3. doi: 10.1016/j.ymgme.2007.06.010. Epub 2007 Aug 7. Mol Genet Metab. 2007. PMID: 17686644

8

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

9

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

10

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P. Lindner M, et al. Among authors: zschocke j. Mol Genet Metab. 2001 May;73(1):104-6. doi: 10.1006/mgme.2001.3168. Mol Genet Metab. 2001. PMID: 11350190

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