Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Disease Mechanism, Genetic Disorder, Genetics +6

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Yizhong Bao, Priya S. Kishnani, J.-Y. Wu et al. · Journal of Clinical Investigation · 1996 · 167 citations · Full text

Genetics, Molecular Biology, Pathology +17

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

Focke Ziemssen, E. Sindern, J. M. Schr�der et al. · Annals of Neurology · 2000 · 77 citations

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis

Thomas T. Tang, Annette D. Segura, Yuan-Tsong Chen et al. · Acta Neuropathologica · 1994 · 64 citations

Cardiomyopathy, Pediatrics, Congenital Heart Defect +2

Glycogenosis IV: A new cause of infantile hypotonia

H Zellweger, Shirley M. Mueller, Victor Ionâşescu et al. · The Journal of Pediatrics · 1972 · 61 citations

Genetic Disorder, Pediatrics, Pediatric Endocrinology +4