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

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.

Journal of medical genetics - 1 Nov 2000

Stone D L, Tayebi N, Coble C, Ginns E I, Sidransky E

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cardiovascular Diseases
Share to Fibrosis
Share to Follow-Up Studies
Share to Gaucher Disease

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

Share to Glucosylceramidase

Share to Hydrocephalus

Share to Ophthalmoplegia

Share to Viscera

Source

Open in PubMed Open full text

Identifiers

PMID: 11073549
DOI: 10.1136/jmg.37.11.e40
PMCID: PMC1734463

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

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.PMID 11073549Read ↗

Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.Semantic proximity Read ↗

Vitreous Changes in Gaucher Disease Type 3.Semantic proximity Read ↗

3 Gaucher's disease: clinical features and natural historySemantic proximity Read ↗

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.Semantic proximity Read ↗

[Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment].Semantic proximity Read ↗

Multiple Vasculopathies and Heart Failure in Patient With ACTA-2 Mutation.Semantic proximity Read ↗

Hematologically important mutations: Gaucher disease.Semantic proximity Read ↗

Hematologically important mutations: Gaucher disease.Semantic proximity Read ↗

Hematologically important mutations: Gaucher disease.Semantic proximity Read ↗

Sex differences and risk factors for bleeding in Alagille syndromeSemantic proximity Read ↗

Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.Semantic proximity Read ↗

Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.Semantic proximity Read ↗

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