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Article

Molecular basis of glutathione reductase deficiency in human blood cells.

Blood - 15 Apr 2007

Kamerbeek Nanne M, van Zwieten Rob, de Boer Martin, Morren Gert, Vuil Herma, Bannink Natalja, Lincke Carsten, Dolman Koert M, Becker Katja, Schirmer R Heiner, Gromer Stephan, Roos Dirk

Abstract excerpt

Hereditary glutathione reductase (GR) deficiency was found in only 2 cases when testing more than 15 000 blood samples. We have investigated the blood cells of 2 patients (1a and 1b) in a previously described family suffering from favism and cataract and of a novel patient (2) presenting with severe neonatal jaundice. Red blood cells and leukocytes of the patients in family 1 did not contain any GR activity, and...

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PMID: 17185460
DOI: 10.1182/blood-2006-08-042531

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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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