Morbus Pompe ist eine schwerwiegende lysosomale Stoffwechselerkrankung, die sich von
frühester Kindheit bis ins Erwachsenenalter klinisch manifestieren kann. Ihre Diagnose wird …

Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006.
In summary, after eight years of screening there were five infants identified with early-onset …

Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset
Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the …

Pompe disease results from a defect in human acid α-glucosidase (GAA), a lysosomal
enzyme that cleaves terminal α1-4 and α1-6 glucose from glycogen. In Pompe disease (also …

Enzyme replacement therapy (ERT) has revolutionized treatment for patients with LSDs,
currently available for Mucopolysaccharidosis I (MPS I), MPS II, MPS IV, MPS VI, Gaucher …

Late‐onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal
enzyme acid alpha‐glucosidase (GAA), leading to progressive limb‐girdle weakness and …

Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the
acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between …

English Glucogenosis type II or Pompe disease corresponds to the group of lysosomal
storage entities in which there is a deficiency of the enzyme alpha-glucosidase, resulting in …

ABSTRACT Introduction: Glycogenosis type II (GSDII or acid maltase deficiency) is a rare
autosomal disorder caused by deficiency of alpha-glucosidase, a lysosomal enzyme that …

Pompe disease is an autosomal-recessive disorder caused by acid alpha-glucosidase
deficiency due to mutations in the GAA gene. There are two forms of the disease: infantile …