Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are
alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive …

Clinically, Pompe disease encompasses a range of phenotypes. Infantile-onset Pompe
disease is uniformly lethal. Affected infants present in the first few months of life with …

Disclaimer: ACMG standards and guidelines are designed primarily as an educational
resource for physicians and other health care providers to help them provide quality medical …

Background: Newborn screening for deficiency in the lysosomal enzymes that cause Fabry,
Gaucher, Krabbe, Niemann–Pick A/B, and Pompe diseases is warranted because treatment …

Lysosomal storage diseases (LSDs) comprise a group of at least 50 distinct genetic
diseases, each one resulting from a deficiency of a particular lysosomal protein/activity or, in …

Tandem mass spectrometry is currently used in newborn screening programmes to quantify
the level of amino acids and acylcarnitines in dried blood spots for detection of metabolites …

Lysosomal storage disorders are rare inborn errors of metabolism, with a combined
incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom …

Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a
deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It presents at any age, with …

Background: Glycogen storage disease II is characterized by a deficiency of the lysosomal
enzyme acid α-glucosidase. Currently, glycogen storage disease II is diagnosed by …

Lysosomal storage disorders (LSD) are chronic progressive diseases that have a
devastating impact on the patient and family. Most patients are clinically normal at birth but …