Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease

Recommendations for Chamber Quantification: A Report from the American Society of Echocardiography’s Guidelines and Standards Committee and the Chamber Quantification Writing Group, Developed in Conjunction with the European Association of Echocardiography, a Branch of the European Society of Cardiology

Roberto M. Lang, Michelle Bierig, Richard B. Devereux et al. · Journal of the American Society of Echocardiography · 2005 · 11.3K citations

Medicine, Cardiology, Clinical Cardiology +14

The metabolic and molecular bases of inherited disease

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

Life Sciences, Genetics, Molecular Genetics +14

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 772 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +10

Pompe disease diagnosis and management guideline

Priya S. Kishnani, Robert D. Steiner, Deeksha Bali et al. · Genetics in Medicine · 2006 · 628 citations · Full text

Veterinary Medicine, Pathobiology, Postharvest Disease Management +2

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Priya S. Kishnani, Wuh‐Liang Hwu, Hanna Mandel et al. · The Journal of Pediatrics · 2006 · 585 citations

Medicine, Neurology, Pediatrics +3