Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina
Author:
Affiliation:
1. Hospital de Pediatría Juan P. Garrahan, Argentina
2. Hospital de Pediatría Prof Dr Juan P Garrahan, Argentina
Publisher
FapUNIFESP (SciELO)
Subject
Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://www.scielo.br/pdf/jiems/v9/2326-4594-jiems-9-e20200028.pdf
Reference55 articles.
1. The Online Metabolic and Molecular Bases of Inherited Disease;Chen Y-T,2009
2. A new variant of glycogen storage disease type 1: Probably due to a defect in the glucose-6-phosphate transport system;Igarashi Y;J Inherit Metab Dis,1979
3. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a;Veiga-da-Cunha M;Eur J Hum Genet,1999
4. Type I Glycogen Storage Diseases: Disorders of the Glucose-6- Phosphatase Complex;Chou J;Curr Mol Med,2002
5. Hepato-Nephromegaliaglykogenica;von Gierke E;Beitr Pathol,1976
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