Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Author:

Davit-Spraul Anne,Piraud Monique,Dobbelaere Dries,Valayannopoulos Vassili,Labrune Philippe,Habes Dalila,Bernard Olivier,Jacquemin Emmanuel,Baussan Christiane

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Glycogen storage diseases;Chen,2001

2. The glycogen storage diseases and related disorders;Smit,2006

3. Glycogen storage diseases: new perspectives;Ozen;World J. Gastroenterol.,2007

4. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients;Willems;Eur. J. Pediatr.,1990

5. Genetic deficiencies of the glycogen phosphorylase system;Hendrickx;Hum. Genet.,1996

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