Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing
progressive glycogen accumulation in muscles, with variability in age of onset and severity …

Purpose Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed
via newborn screening (NBS) to provide guidance for long-term follow up. Methods Twenty …

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 (MIM# 232300) is an autosomal recessive lysosomal glycogen storage
disorder first described in 1932 (1) and it is caused by biallelic mutations in the GAA gene …

The high frequency (3.3–3.9%) of acid α-glucosidase pseudodeficiency, c.[1726G> A;
2065G> A] homozygote (AA homozygote), in Asian populations complicates newborn …

Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid
alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset …

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that is
caused by acid α‐glucosidase (GAA) deficiency and is due to pathogenic sequence …

Clinically, Pompe disease encompasses a range of phenotypes. Infantile-onset Pompe
disease is uniformly lethal. Affected infants present in the first few months of life with …

Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting
from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal …

Pompe disease is caused by mutations in the acid α‐glucosidase (GAA) gene. Multiple
kinds of mutations in the GAA gene have been reported worldwide. In order to elucidate the …