Background The genetic prevalence of Pompe disease was estimated based on the
proportion of individuals who have a causative genotype in a general population database …

We discuss four cases of acid α-glucosidase deficiency (EC, 3.2. 1.3/20) without evident
symptoms of Pompe disease (OMIM No 232300) in individuals of Asian descent. In three …

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal
disorder in which acid α-glucosidase (GAA) deficiencies lead to intralysosomal …

Objectives To evaluate the clinical and molecular spectrum, and factors affecting clinical
outcome of patients in India diagnosed with infantile-onset Pompe disease (IOPD). Study …

Objective Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset
Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity …

Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the
enzyme acid α‐glucosidase that degrades lysosomal glycogen. Clinical features of diffuse …

OBJECTIVE: To characterize the natural progression of infantile-onset Pompe disease.
STUDY DESIGN: Retrospective chart reviews of 168 patients with documented acid α …

Background As little information is available on children with non-classic presentations of
Pompe disease, we wished to gain knowledge of specific clinical characteristics and …

Background Patients with infantile-onset Pompe disease (IOPD) can be identified through
newborn screening, and the subsequent immediate initiation of enzyme replacement …

Our study aimed to evaluate the utility of muscle ultrasound in newborn screening of infantile-
onset Pompe disease (IOPD) and to establish a system of severity grading. We …