Yoon S. Shin

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Wolfgang Müller‐Felber, Rita Horváth, Klaus Gempel et al. · Neuromuscular Disorders · 2007 · 236 citations

Neurology, Neurophysiological Spectrum, Medicine +2

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 · 94 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +10

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

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

Julia B. Hennermann, Peter Schadewaldt, Barbara Vetter et al. · Journal of Inherited Metabolic Disease · 2011 · 71 citations