Joanne Mackey

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

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

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using <i>GAA</i> mutations: Lessons learned from 10 years of clinical laboratory testing experience

Deeksha Bali, Jennifer Goldstein, Suhrad G. Banugaria et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2012 · 129 citations

Life Sciences, Immunology, Pathology +13

Recombinant human acid ??-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 · 91 citations

Life Sciences, Biochemistry, Pediatrics +11

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells

Suhrad G. Banugaria, Trusha Patel, Joanne Mackey et al. · Molecular Genetics and Metabolism · 2012 · 70 citations · Full text

Life Sciences, Immunology, Pediatrics +13