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Article

Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency.

Clinical biochemistry - 1 Jun 2008

Minucci Angelo, Concolino Paola, Vendittelli Francesca, Giardina Bruno, Zuppi Cecilia, Capoluongo Ettore

Abstract excerpt

OBJECTIVE: : Glucose 6-phosphate dehydrogenase (G6PD) catalyzes the first committed steps in the pentose phosphate pathway: the generation of NADPH by this enzyme is essential for protection against oxidative stress. The human enzyme is in a dimer<-->tetramer equilibrium and its stability depends on NADP(+) concentration. Herein, we report a case of a symptomatic baby affected by severe deficiency of G6PD...

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Identifiers

PMID: 18086567
DOI: 10.1016/j.clinbiochem.2007.11.009

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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.

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