Results 251 to 260 of about 6,268,347 (286)

Lysosomal Storage Diseases in Livestock

Veterinary Clinics of North America: Food Animal Practice, 1993
Lysosomal storage diseases may be inherited or acquired. The former are usually inherited as autosomal traits, and heterozygotes may be identified by having enzyme activity levels approximately midway between normal and diseased values. Founder effect, enhanced by widespread acceptance of artificial breeding technologies, has been important in the ...
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[Lysosomes and lysosomal storage diseases].

Journal de la Societe de biologie, 2002
Lysosomal 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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From Lysosomal Storage Disorders to Parkinson’s Disease – Challenges and Opportunities

Journal of Molecular Biology, 2023
Friederike Zunke, Philipp Arnold
exaly  

Lysosomal Storage Diseases

Annual Review of Biochemistry, 1991
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[Lysosomal storage disease].

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.
openaire   +1 more source

Acetyl-leucine slows disease progression in lysosomal storage disorders.

Brain Communications, 2021
John Spencer, Karl Morten, Frances Platt
exaly  

Lysosomal storage diseases

Pharmacology & Therapeutics, 1982
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Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease

International Journal of Molecular Sciences, 2020
Anthony H. Futerman, Shani Blumenreich
exaly  

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond†‡§

Movement Disorders, 2011
Anthony H. Futerman, Annick Raas-Rothschild   +1 more
exaly  

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease

European Journal of Pediatrics, 1997
E Kattner
exaly