Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has
been known for over 75 years. While an optimist might be excited about the advances made …

Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

Purpose We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher,
Niemann–Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage …

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 …

Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the
lysosomal enzyme acid-a-glucosidase (GAA; EC 3.2. 1.20), leading to generalized …

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 …

Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare
autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been …

Diagnostic delays in Pompe disease are common. The diagnostic gap (the time from the
onset of symptoms to the diagnosis of Pompe disease) and factors associated with …

Pennsylvania started newborn screening for Pompe disease in February 2016. Between
February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase …

Fabry disease, an X-linked glycosphingolipid storage disorder, is caused by the deficient
activity of α-galactosidase A (α-Gal A). This results in the lysosomal accumulation in various …