Literature DB >> 11583052

Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.

G L Arnold1, M L Griebel, M Porterfield, M Brewster.   

Abstract

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Year:  2001        PMID： 11583052     DOI： 10.1177/000992280104000909

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN： 0009-9228            Impact factor:   1.168


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  3 in total

1.  The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Authors:  Dong Wang; Hong Yang; Kevin C De Braganca; Jiesheng Lu; Ling Yu Shih; Paz Briones; Tim Lang; Darryl C De Vivo
Journal:  Mol Genet Metab       Date:  2008-08-03       Impact factor: 4.797

2.  Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.

Authors:  Mary Anna Carbone; Brian H Robinson
Journal:  Biochem J       Date:  2003-02-15       Impact factor: 3.857

Review 3.  An Introduction to Pharmacotherapy for Inborn Errors of Metabolism.

Authors:  Aaron A Harthan
Journal:  J Pediatr Pharmacol Ther       Date:  2018 Nov-Dec
  3 in total

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