Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease

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

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

Priya S. Kishnani, Paula Goldenberg, Stephanie DeArmey et al. · Molecular Genetics and Metabolism · 2009 · 379 citations

Medicine, Immunology, Pediatrics +5

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 · 347 citations · Full text

Life Sciences, Biochemistry, Pediatrics +8