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Article

[Inborn errors of metabolism due to mutations in isoenzyme genes].

Nihon rinsho. Japanese journal of clinical medicine - 1 May 1995

Takagi Y

Abstract excerpt

Technical advances in molecular biology have permitted the detailed study of specific genes in the pathogenesis of inborn errors of metabolism. Analysis of inborn errors of metabolism due to mutations in isoenzyme genes are summarized in this paper. GM2-gangliosidosis results from a deficiency in the activity of beta-N-acetyl hexosaminidase (HEX), and produces two types of diseases: Tay-Sachs and Sandohoff...

Topics

Humans
Infant, Newborn
Isoenzymes
Metabolism, Inborn Errors
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7602767

Genes

HEXA
HEXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7602767-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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