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 …

Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if
onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to …

Objectives To assess the outcomes of newborn screening for 5 lysosomal storage disorders
(LSDs) in the first cohort of infants tested in the state of Illinois. Study design Tandem mass …

In 1964, Christian de Duve first suggested that enzyme replacement might prove therapeutic
for lysosomal storage diseases (LSDs). Early efforts identified the major obstacles, including …

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 …

Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

Purpose To develop educational guidelines for the diagnostic confirmation and
management of individuals identified by newborn screening, family-based testing after …

Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is
deficient or absent. Deficiency of this lysosomal enzyme results in progressive expansion of …

Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a
wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha …