Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity

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

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

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

(2009) Sarah P Young et al.   GENETICS IN MEDICINE

Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease

(2009) Kanako Sugawara et al.   JOURNAL OF HUMAN GENETICS

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

(2009) Shingo Kumamoto et al.   MOLECULAR GENETICS AND METABOLISM

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

(2009) Paul Labrousse et al.   MOLECULAR GENETICS AND METABOLISM

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

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

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

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

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

(2008) Marian A Kroos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) Marian Kroos et al.   HUMAN MUTATION

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

(2008) MG Pittis et al.   HUMAN MUTATION

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

(2008) L. Wan et al.   JOURNAL OF NEUROLOGY

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

(2008) A. C. Nascimbeni et al.   NEUROLOGY

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

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

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

(2007) B. Winchester et al.   MOLECULAR GENETICS AND METABOLISM