Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

(2015) Laura E. Case et al.   NEUROMUSCULAR DISORDERS

Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice

(2015) Jin Su et al.   PLANT BIOTECHNOLOGY JOURNAL

Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

(2014) Kunil K. Raval et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease

(2013) Zhaohui Wang et al.   MOLECULAR GENETICS AND METABOLISM

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

(2013) Sean N Prater et al.   Orphanet Journal of Rare Diseases

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

(2013) Suhrad G. Banugaria et al.   PLoS One

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

(2012) Deeksha S. Bali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

(2012) Nina Raben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

(2011) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Pompe disease: Design, methodology, and early findings from the Pompe Registry

(2011) Barry J. Byrne et al.   MOLECULAR GENETICS AND METABOLISM

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

(2009) Marc Nicolino et al.   GENETICS IN MEDICINE

Age-Specific Reference Intervals for Indexed Left Ventricular Mass in Children

(2009) Philip R. Khoury et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

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

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

(2008) Marian Kroos et al.   HUMAN MUTATION

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS