Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

(2012) Caroline Regnery et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

(2011) Carine I. van Capelle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease

(2011) N.A.M.E. van der Beek et al.   MOLECULAR GENETICS AND METABOLISM

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease

(2011) David Orlikowski et al.   NEUROMUSCULAR DISORDERS

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

(2010) Bruno Bembi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

(2010) Juna M. de Vries et al.   MOLECULAR GENETICS AND METABOLISM

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

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

(2009) O. P. van Diggelen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

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

(2008) Marian Kroos et al.   HUMAN MUTATION

Pompe's disease

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

Clinical features of late-onset Pompe disease: A prospective cohort study

(2008) John H.J. Wokke et al.   MUSCLE & NERVE

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

(2008) C.I. van Capelle et al.   NEUROMUSCULAR DISORDERS

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease

(2008) N.A.M.E. Van der Beek et al.   NEUROMUSCULAR DISORDERS