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Article

[Lysosome disease--Sandhoff disease].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Eguchi I, Wakamatsu N, Nakano R, Tsuji S

Abstract excerpt

Lysosomal beta-hexosaminidase occurs as two major isozymes hexosaminidase A and B. The alpha subunit is encoded by the HEXA gene and the subunit by HEXB gene. Defects in the beta subunit lead to Sandhoff disease. Patients with the defect lack the activity or formation of both hexosaminidase A and B. The disorders are classified according to the age of onset, as infantile, juvenile and adult form. Recent molecular...

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Source

Identifiers

PMID: 8411702

Genes

HEXB
HEXA

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.

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[Lysosome disease--Sandhoff disease].PMID 8411702Read ↗

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.Semantic proximity Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia].Semantic proximity Read ↗

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB geneSemantic proximity Read ↗

[HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].Semantic proximity Read ↗

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.Semantic proximity Read ↗

Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.Semantic proximity Read ↗

[Sandhoff disease (beta-hexosaminidase alpha-chain deficiency)].Semantic proximity Read ↗

Novel homozygous HEXB mutation identified in a consanguineous Iranian pedigree with Sandhoff diseaseSemantic proximity Read ↗

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.Semantic proximity Read ↗

Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease.Semantic proximity Read ↗

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