Fetal gene therapy for neurodegenerative lysosomal storage diseases

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Enzyme replacement therapy for lysosomal storage diseases.

Enzyme replacement therapy (ERT) has been approved for 6 lysosomal storage diseases (LSDs) worldwide including Japan. These diseases include Gaucher disease (GD), Fabry disease, mucopolysaccharidosis (MPS) types I, II, and VI, and Pompe disease (PD). The efficacy and safety of ERT for LSDs has been confirmed by extensive clinical trials. However, there are still obstacles to successful ERT, suc...

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Molecular Therapy for Lysosomal Storage Diseases

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Lysosomal storage diseases

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosac...

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ژورنال

عنوان ژورنال: Journal of Inherited Metabolic Disease

سال: 2019

ISSN: 0141-8955

DOI: 10.1002/jimd.12018