Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients

(2020) Esther Poelman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

(2019) Monica Y. Niño et al.   HUMAN MUTATION

Long-term outcome and unmet needs in infantile-onset Pompe disease

(2019) Andreas Hahn et al.   Annals of Translational Medicine

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

Early higher dosage of alglucosidase alpha in classic Pompe disease

(2018) Marco Spada et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & 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

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

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

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

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

(2012) Suhrad G. Banugaria 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

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET