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

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy

(2018) Paul T. McIntosh et al.   MOLECULAR GENETICS AND METABOLISM

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

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge

(2016) Berendine J. Ebbink et al.   NEUROLOGY

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

(2016) Steven Shinn-Forng Peng et al.   Orphanet Journal of Rare Diseases

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

(2015) A. Broomfield et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

(2014) Carin M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Immune Tolerance Induced Using Plasma Exchange and Rituximab in an Infantile Pompe Disease Patient

(2013) Federica Deodato et al.   JOURNAL OF CHILD NEUROLOGY

B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

(2013) Melissa E. Elder et al.   JOURNAL OF PEDIATRICS

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

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

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

The emerging phenotype of long-term survivors with infantile Pompe disease

(2012) Sean N. Prater et al.   GENETICS IN MEDICINE

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

(2012) John A. Maga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

(2012) B. J. Ebbink et al.   NEUROLOGY

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

Hearing loss in Pompe disease revisited: results from a study of 24 children

(2010) Carine I. van Capelle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

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

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

(2009) Nancy J. Mendelsohn 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

Biochemical and pharmacological characterization of different recombinant acid α-glucosidase preparations evaluated for the treatment of Pompe disease

(2008) A.J. McVie-Wylie et al.   MOLECULAR GENETICS AND METABOLISM