A case of benign pyruvate carboxylase deficiency with normal development
Author:
Affiliation:
1. ; Department of Biochemistry; Royal Hospital for Sick Children; Yorkhill NHS Trust Glasgow G3 8SJ UK
2. ; Department of Child Health; Royal Hospital for Sick Children; Yorkhill NHS Trust Glasgow G3 8SJ UK
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005350600278/fullpdf
Reference4 articles.
1. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency;Atkin;Pediatr Res,1979
2. Pyruvate carboxylase deficiencies: complementation studies between ‘French’ and ‘American’ phenotypes in cultured fibroblasts;Augereau;J Inher Metab Dis,1985
3. Pyruvate carboxylase deficiency: a benign variant with normal development;Van Coster;Pediatr Res,1991
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