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Article

Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.

Blood cells, molecules & diseases - 1 Jun 2017

Almusafri Fatima, Elamin Hiba E, Khalaf Tamam E, Ali Alaa, Ben-Omran Tawfeg, El-Hattab Ayman W

Abstract excerpt

Glutathione (gamma-glutamylcysteinylglycine) has diverse functions including free radicals scavenging and modulating many critical cellular processes. Glutathione is synthesized by the consecutive action of the enzymes glutamate-cysteine ligase (GCL) and glutathione synthetase. GCL is composed of a catalytic subunit encoded by the GCLC gene and a regulatory subunit encoded by the GCLM gene. GCL deficiency due to...

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Identifiers

PMID: 28571779
DOI: 10.1016/j.bcmd.2017.05.011

Genes

GCLC
GCLM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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