Early higher dosage of alglucosidase alpha in classic Pompe disease

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

(2018) Esther Poelman et al.   JOURNAL OF PEDIATRICS

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

(2018) Ankit K. Desai et al.   MOLECULAR GENETICS AND METABOLISM

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

(2018) Rossella Parini et al.   Orphanet Journal of Rare Diseases

Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease

(2017) Yin-Ting Zeng et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study

(2016) C. M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes

(2016) Chia-Feng Yang et al.   JOURNAL OF PEDIATRICS

Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth

(2015) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

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

Playing competitive basketball in face of late-onset pompe disease

(2014) Francesco Porta et al.   MUSCLE & NERVE

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia

(2013) Marco Spada et al.   MOLECULAR GENETICS AND METABOLISM

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

(2012) Yoav H. Messinger et al.   GENETICS IN MEDICINE

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

(2012) Marian Kroos et al.   HUMAN MUTATION

Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease

(2012) Marco Spada et al.   MOLECULAR GENETICS AND METABOLISM

Left Ventricular Geometry, Global Function, and Dyssynchrony in Infants and Children With Pompe Cardiomyopathy Undergoing Enzyme Replacement Therapy

(2011) Chun-An Chen et al.   JOURNAL OF CARDIAC FAILURE

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability

(2010) A.M. Glanzman et al.   NEUROMUSCULAR DISORDERS

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

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

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