Articles tagged with Pompe disease
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Lysosomal Storage Diseases (LSD) Panel
Lysosomal storage diseases (LSD) are a heterogeneous group of inherited disorders characterized by the accumulation of partially digested or undigested macromolecules in cells, due to the absence of different lysosomal enzymes, which ultimately results in cellular dysfunction and clinical…
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Glycogen Storage Disease II or Pompe Disease
Pompe disease, also known as glycogen storage disease type 2 (GSD II), is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
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Newborn Screening for Lysosomal Storage Disorders in Hungary
Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. Overall, we conclude that screening for LSDs by tandem MS/MS followed by a genetic workup in…
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BioPompe – Biomarker for Pompe Disease
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited, and often fatal disorder that disables the heart and muscles. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early…