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Lysosomal Storage Diseases

open access: yesJournal of Inborn Errors of Metabolism and Screening, 2014
Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders.
Alroy, Joseph, Lyons, Jeremiah A.
openaire   +4 more sources

Biomarkers in Lysosomal Storage Diseases [PDF]

open access: yesDiseases, 2016
A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have ...
Joaquin Bobillo Lobato   +2 more
openaire   +3 more sources

Nanoreporter Identifies Lysosomal Storage Disease Lipid Accumulation Intracranially. [PDF]

open access: yesNano Lett, 2023
Antman-Passig M   +10 more
europepmc   +1 more source

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease. [PDF]

open access: yesMol Ther, 2022
Monaco A   +13 more
europepmc   +1 more source

Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study. [PDF]

open access: yesFront Vet Sci, 2021
Tamura S   +7 more
europepmc   +1 more source

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study. [PDF]

open access: yesOrphanet J Rare Dis, 2021
Terai H   +8 more
europepmc   +1 more source

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