Zschocke J - Search Results

1

Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity.

Peters V, Kebbewar M, Jansen EW, Jakobs C, Riedl E, Koeppel H, Frey D, Adelmann K, Klingbeil K, Mack M, Hoffmann GF, Janssen B, Zschocke J, Yard BA. Peters V, et al. Among authors: zschocke j. Amino Acids. 2010 May;38(5):1607-15. doi: 10.1007/s00726-009-0367-z. Epub 2009 Nov 14. Amino Acids. 2010. PMID: 19915793

2

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

3

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.

4

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.

5

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.

6

PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria.

Zschocke J, Hoffmann GF. Zschocke J, et al. Eur J Pediatr. 2000 Oct;159 Suppl 2:S154-5. doi: 10.1007/pl00014382. Eur J Pediatr. 2000. PMID: 11043163 No abstract available.

7

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.

Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Zschocke J, et al. Pediatr Res. 2000 Dec;48(6):852-5. doi: 10.1203/00006450-200012000-00025. Pediatr Res. 2000. PMID: 11102558

8

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.

Kölker S, Ramaekers VT, Zschocke J, Hoffmann GF. Kölker S, et al. Among authors: zschocke j. J Pediatr. 2001 Feb;138(2):277-9. doi: 10.1067/mpd.2001.110303. J Pediatr. 2001. PMID: 11174631

9

Cycle sequencing of polymerase chain reaction-amplified genomic DNA with dye-labeled universal primers.

Zschocke J, Hoffmann GF. Zschocke J, et al. Methods Mol Biol. 2001;167:113-7. doi: 10.1385/1-59259-113-2:113. Methods Mol Biol. 2001. PMID: 11265311 Review. No abstract available.

10

Molecular and functional characterisation of mild MCAD deficiency.

Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E. Zschocke J, et al. Hum Genet. 2001 May;108(5):404-8. doi: 10.1007/s004390100501. Hum Genet. 2001. PMID: 11409868

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