A novel mutation in a Brazilian patient with glycogen storage disease type 1a-Reference-Cited by-同舟云学术

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A novel mutation in a Brazilian patient with glycogen storage disease type 1a

Published:1998-06 Issue:4 Volume:21 Page:447-447
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sartorato E. L.,Reis F. C.,Norato D. Y. J.,Hackel C.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005391600145/fullpdf

Reference1 articles.

1. Genetic basis of prevalent mutations at the glucose-6-phosphatase locus;Lei;Am J Hum Genet,1995

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1. Neonatal Glycogen Storage Disease Ia;Pediatrics & Neonatology;2015-02

2. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation;European Journal of Pediatrics;2002-10

3. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation;European Journal of Pediatrics;2002-01-01

4. Molecular Genetics of Type 1 Glycogen Storage Disease;Molecular Genetics and Metabolism;2001-06

5. Glycogen storage disease type Ia: molecular study in Brazilian patients;Journal of Human Genetics;2001-03

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