A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

(2012) Priya S. Kishnani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The genotype-phenotype correlation in Pompe disease

(2012) Marian Kroos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

(2011) Deeksha S. Bali et al.   MUSCLE & NERVE

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

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

(2008) MG Pittis et al.   HUMAN MUTATION

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

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