Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

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 …

Abstract Background Lysosomal storage diseases (LSDs) are inborn errors of metabolism
resulting from 50 different inherited disorders. The increasing availability of treatments and …

Background The interest in neonatal screening for lysosomal storage disorders has
increased substantially because of newly developed enzyme replacement therapies, the …

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 …

Objective To evaluate the performance of a statewide full-population pilot study in Missouri
on newborn blood spots for screening of lysosomal storage disorders (LSDs) using digital …

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 …

Objective To assess the performance of a tandem mass spectrometry (MS/MS) technology in
a newborn screening laboratory to simultaneously measure α-galactosidase, acid-α …

Introduction: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of
the glycogen‐degrading lysosomal enzyme acid alpha‐glucosidase. Late‐onset Pompe …