The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Glycogen storage disease type IX: High variability in clinical phenotype

Nicholas Beauchamp, Ann Dalton, Uma Ramaswami et al. · Molecular Genetics and Metabolism · 2007 · 125 citations

Life Sciences, Genetics, Molecular Genetics +12

The long‐term outcome of patients with glycogen storage diseases

Gerrit Smit, J. Fernandes, James V. Leonard et al. · Journal of Inherited Metabolic Disease · 1990 · 106 citations

Medicine, Endocrinology, Internal Medicine +9

Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)

Barbara Burwinkel, H. D. Bakker, Eliezer Herschkovitz et al. · The American Journal of Human Genetics · 1998 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients

Patrick J. Willems, Willem J.M. Gerver, R. Berger et al. · European Journal of Pediatrics · 1990 · 97 citations

Medicine, Biochemistry, Internal Medicine +16

Liver Glycogenosis Due to Phosphorylase Kinase Deficiency: PHKG2 Gene Structure and Mutations Associated with Cirrhosis

Barbara Burwinkel, Susumu Shiomi, Abdullah Al Zaben et al. · Human Molecular Genetics · 1998 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16