Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment-Reference-Cited by-同舟云学术

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Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment

Published:2000-06 Issue:4 Volume:23 Page:371-374
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Zeman J.¹,Krijt J.²,Stratilová L.¹,Hansíková H.¹,Wenchich L.¹,Kmoch S.²,Chrastina P.²,Houštěk J.³

Affiliation:

1. ; Department of Paediatrics, Faculty of Medicine; Charles University; Prague Czech Republic

2. ; Institute for Inherited Metabolic Disorders, Faculty of Medicine; Charles University; Prague Czech Republic

3. ; Institute of Physiology; Academy of Sciences of the Czech Republic; Prague Czech Republic

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005639516342/fullpdf

Reference16 articles.

1. Adenylosuccinate lyase from human erythrocytes;Barnes;Int J Biochem,1975

2. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency;Bourgeron;J Clin Invest,1994

3. The kinetics of adenylosuccinate lyase;Bridger;Biol Chem,1968

4. The cleavage of adenylosuccinate and 5-amino-4-imidazole-N-succino-carboxamide ribonucleotide by an adenylosuccinate lyase from Ehrlich ascites tumor cells;Brox;Can J Biochem,1973

5. Molecular analysis and prenatal diagnosis of human fumarase deficiency;Coughlin;Mol Genet Metab,1998

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