Lysosomal Storage Disorders in Human Health and Disease leaf node


URI

https://openalex.org/T10945

Label

Lysosomal Storage Disorders in Human Health and Disease

Description

This cluster of papers explores the diverse aspects of lysosomal storage disorders, including enzyme replacement therapy, genetic mutations, and the impact on various diseases such as Gaucher disease, Fabry disease, Niemann-Pick disease, and Parkinson's disease. It also delves into the underlying mechanisms related to cholesterol metabolism and neuronal ceroid lipofuscinoses.

Implementation

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@prefix openalex: <https://lambdamusic.github.io/openalex-hacks/ontology/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://openalex.org/T10945> a skos:Concept ;
    rdfs:label "Lysosomal Storage Disorders in Human Health and Disease"@en ;
    rdfs:isDefinedBy openalex: ;
    owl:sameAs <https://en.wikipedia.org/wiki/Lysosomal_storage_disease>,
        <https://openalex.org/T10945> ;
    skos:broader oasubfields:2737 ;
    skos:definition "This cluster of papers explores the diverse aspects of lysosomal storage disorders, including enzyme replacement therapy, genetic mutations, and the impact on various diseases such as Gaucher disease, Fabry disease, Niemann-Pick disease, and Parkinson's disease. It also delves into the underlying mechanisms related to cholesterol metabolism and neuronal ceroid lipofuscinoses."@en ;
    skos:inScheme openalex: ;
    skos:prefLabel "Lysosomal Storage Disorders in Human Health and Disease"@en ;
    openalex:cited_by_count 958305 ;
    openalex:works_count 49127 .