Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variable clinical presentation in lysosomal storage disorders.

Journal of inherited metabolic disease - 1 Jan 2001

Beck M

Abstract excerpt

Extensive clinical heterogeneity is seen in lysosomal storage disorders, regarding the age of onset and severity of symptoms, the organs involved, and effects on the central nervous system. A broad phenotypic spectrum is seen, for example, in mucopolysaccharidosis type I (Hurler/Scheie disease), Gaucher disease, the several forms of GM2-gangliosidosis and the different manifestations of beta-galactosidase...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cellular transport and secretion
Share to Disease Progression
Share to Lysosomal Storage Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lysosomal Storage Disorders Research

Share to Mutation

Share to Phenotype

Share to Trypanosoma species research and implications

Source

Identifiers

PMID: 11758678
DOI: 10.1023/a:1012463605992

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variable clinical presentation in lysosomal storage disorders.PMID 11758678Read ↗

Lysosomal disorders.Semantic proximity Read ↗

Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record AnalysisSemantic proximity Read ↗

Overview of immune abnormalities in lysosomal storage disorders.Semantic proximity Read ↗

Lysosomal diseases: biochemical pathways and investigations.Semantic proximity Read ↗

Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.Semantic proximity Read ↗

Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher diseaseSemantic proximity Read ↗

Oncological Aspects of Lysosomal Storage DiseasesSemantic proximity Read ↗

Gangliosidoses.Semantic proximity Read ↗

[Lysosomal storage disease: a group of genetic neurodegenerative disorders].Semantic proximity Read ↗

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.Semantic proximity Read ↗

What can cell biology tell us about heterogeneity in lysosomal storage diseases?Semantic proximity Read ↗

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.