Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the
deficiency of individual enzymes involved in the synthesis, transport, and degradation of …

Owing to the advances in transgenic animal technology and the advent of the next-
generation sequencing era, over 120 genes causing hereditary hearing loss have been …

Pompe disease is a severe disorder caused by loss of acid α‐glucosidase (GAA), leading to
glycogen accumulation in tissues and neuromuscular and cardiac dysfunction. Enzyme …

Adeno-associated virus (AAV) vectors are used for correcting multiple genetic disorders.
Although the goal is to achieve lifelong correction with a single vector administration, the …

Valoctocogene roxaparvovec (AAV5-hFVIII-SQ) gene transfer provided reduced bleeding for
adult clinical trial participants with severe hemophilia A. However, pediatric outcomes are …

Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase
(GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in …

Introduction Pompe disease is an autosomal recessive disorder caused by a deficiency of
acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A …

Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …

The cation channel transient receptor potential melastatin 4 (TRPM4) is a calcium-activated
non-selective cation channel and acts in cardiomyocytes as a negative modulator of the L …

Mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder
characterized by deficiency of α-L-iduronidase (IDUA) activity, causes multisystemic …