Pompe disease, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Abstract Purpose of Review This review summarizes the clinical presentation and provides
an update on the current strategies for diagnosis of Pompe disease. We will review the …

Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable
disorders currently undetected by conventional newborn screening. Despite broad …

Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal
therapy because organ damage starts in utero. We report the safety and efficacy results of in …

Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-
glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early …

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 …

In the last two decades, the development of high-throughput diagnostic methods and the
availability of effective treatments have increased the interest in newborn screening for …

Objective We retrospectively screened 350,116 electronic health records (EHRs) to identify
suspected patients for Pompe disease. Using these suspected patients, we then describe …

Abstract Background: Lysosomal diseases (LDs) are progressive life-threatening disorders
that are usually asymptomatic at birth. Specific treatments are available for several LDs, and …

Newborn screening for one or more lysosomal disorders has been implemented in several
US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass …