Pamela Arn

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Priya S. Kishnani, Stephanie Austin, José E. Abdenur et al. · Genetics in Medicine · 2014 · 495 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Glycogen Storage Disease Type III diagnosis and management guidelines

Priya S. Kishnani, Stephanie Austin, Pamela Arn et al. · Genetics in Medicine · 2010 · 305 citations · Full text

Medicine, Biochemistry, Internal Medicine +12

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Alexander Doyle, Jefferson J. Doyle, Seneca L. Bessling et al. · Nature Genetics · 2012 · 262 citations · Full text

Medicine, Cardiology, Cardiovascular Genetics +10

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

Luis M. Franco, Venkat Krishnamurthy, Deeksha Bali et al. · Journal of Inherited Metabolic Disease · 2004 · 215 citations

Medicine, Oncology, Pathology +16

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Gregory M. Pastores, Pamela Arn, Michael Beck et al. · Molecular Genetics and Metabolism · 2007 · 206 citations

Public Health, Pathology, Clinical Epidemiology +10