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[Lysosomes and lysosomal storage diseases].
Journal de la Societe de biologie, 2002Lysosomal storage disorders (LSDs) are monogenic inborn errors of metabolism. Various groups have been delineated according to the affected pathway and the accumulated substrate, and new entities are still being identified. They are severe disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement, and ...
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New England Journal of Medicine, 1976
In recent years, the lysosomal storage diseases have received considerable attention from geneticists, biochemists, and molecular biologists. Their efforts have led to the recognition of more than 40 varieties of lysosomal storage disease, many with signs of nervous system degeneration and mental retardation. The combined incidence of these diseases is
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In recent years, the lysosomal storage diseases have received considerable attention from geneticists, biochemists, and molecular biologists. Their efforts have led to the recognition of more than 40 varieties of lysosomal storage disease, many with signs of nervous system degeneration and mental retardation. The combined incidence of these diseases is
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Nihon rinsho. Japanese journal of clinical medicine, 1996
Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences.
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Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences.
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Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics
EMBO Molecular Medicine, 2009Giancarlo Parenti
exaly
From Lysosomal Storage Diseases to NKT Cell Activation and Back
International Journal of Molecular Sciences, 2017Helena Ribeiro, Macedo M Fatima
exaly