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 …

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 …

Lysosomal storage diseases (LSDs) are a group of more than 50 genetic disorders. Clinical
symptoms are caused by the deficiency of specific enzyme (enzymes) function and resultant …

This report was prepared to inform the United States Secretary of Health and Human
Services' Advisory Committee on Heritable Disorders in Newborns and Children about the …

There is a need to evidence the cost of genetic testing and know their profitability in order to
establish criteria for priorizing access to genetic testing for these diseases. We determinated …

Pompe disease (glycogenosis type II) is a rare autosomal recessive lysosomal storage
disorder due to mutations of the GAA gene, leading to the deficiency of acid α-glucosidase …

Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder
caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The …

Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder
caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The …