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Article

Molecular basis of disorders of human galactose metabolism: past, present, and future.

Molecular genetics and metabolism - 1 Jan 2000

Novelli G, Reichardt J K

Abstract excerpt

Molecular cloning and characterization of all three human galactose-metabolic genes have led to the identification of a number of mutations which result in three forms of galactosemia which are caused by kinase (GALK), transferase (GALT), or epimerase (GALE) deficiency. We review here recent developments in the molecular characterization of all three disorders of human galactose metabolism. Recent progress in the...

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Source

Identifiers

PMID: 11001796
DOI: 10.1006/mgme.2000.3073

Genes

GALE
GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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