Laura E. Case

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

K. Bushby, Richard S. Finkel, David J. Birnkrant et al. · The Lancet Neurology · 2009 · 2K citations

Part 1, Kinesiology, Psychiatry +9

Pompe disease diagnosis and management guideline

Priya S. Kishnani, Robert D. Steiner, Deeksha Bali et al. · Genetics in Medicine · 2006 · 612 citations · Full text

Clinical Finding, Medicine, Veterinary Science +4

Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial

Andrea Amalfitano, A. Resai Bengur, Richard P. Morse et al. · Genetics in Medicine · 2001 · 346 citations · Full text

Translational Medicine, Biochemistry, Inherited Metabolic Disease +5

Glycogen Storage Disease Type III diagnosis and management guidelines

Priya S. Kishnani, Stephanie Austin, Pamela Arn et al. · Genetics in Medicine · 2010 · 299 citations · Full text

Management Guidelines, Clinical Finding, Diagnostic Test +4

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

Yoav H. Messinger, Nancy J. Mendelsohn, William J. Rhead et al. · Genetics in Medicine · 2012 · 209 citations · Full text

Primary Immunodeficiency, Maternal Immunization, Autoimmune Disease +12