G6PD Deficiency Research Papers

Articles and Research Papers in English:

Glucose‐6‐phosphate dehydrogenase deficiency and hydroxychloroquine in the COVID‐19 era: a mini review (2021) - by Maria Elisabetta Onori, Claudio Ricciardi Tenore, Andrea Urbani, Angelo Minucci.

Glucose-6-Phosphate Dehydrogenase Deficiency (2008)- by Lucio Luzzatto and Vincenzo Poggi: offers a "state-of-the-art" report on this enzyme deficiency, including coverage of gene therapy and practical medical advice. Read this first [published courtesy of Prof. Lucio Luzzatto].
Glucose-6-Phosphate Dehydrogenase Deficiency (from Hematology, edited by W.J. Williams, E. Beutler, A.J. Erslev, and M.A. Lichtman, New York: McGraw-Hill 1990, p. 591-606) - by Ernest Beutler, M.D. (includes lists of drugs and chemicals that should be avoided and those that may be taken).
Diagnosis and Management of G6PD Deficiency - by Jennifer E. Frank, MAJ, MC, USA, Martin Army Community Hospital, Fort Benning, Georgia [published on the American Academy of Family Physicians web site]
Genetic discussion of G6PD (Glucose-6-Phosphate Dehydrogenase), including most variants. Published on the OMIM Web site (copyright Johns Hopkins University).
Prenatal Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency (from Acta Haematologica (1992) 87:103-104) - by Ernest Beutler, Wanda Kuhl, Michelle Fox, Khalil Tabsh and Barbara F. Crandall.
Glucose-6-Phosphate Dehydrogenase-Deficient Neonates: A Potential Cause for Concern in North America [published on the Pediatrics publication site] - by Michael Kaplan, MB, ChB and Cathy Hammerman, MD (discussing neonatal jaundice and possible resurgence of kernicterus in North America). A must read for parents of jaundiced neonates.
Newborn Jaundice Alert [published on the pickonline.org site].
Redistribution of Glucose-6-Phosphate Dehydrogenase in Response to Cerebral Ischemia in Rat Brain - by Rachna Agarwal, Abdelhaq Rami [published on the Indian Journal of Clinical Biochemistry web site]
The Role of Glucose-6-Phosphate Dehydrogenase in the Clearance of Oxidant Stress Products in Muscle During Exercise - by Paolino Ninfali and Nereo Bresolin.
Muscle Expression Of Glucose-6-Phosphate Dehydrogenase Deficiency in Different Variants - by Paolino Ninfali, Luciano Baronciani, Alessandra Bardoni and Nereo Bresolin.
Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase (from Blood Cells, Molecules and Diseases (1996) 22(4) Feb. 29: 49-56) - by Ernest Beutler, Tom Vulliamy and Lucio Luzzatto.
Favism in a female newborn infant whose mother ingested fava beans before delivery (from The Journal of Pediatrics (1995) 127.5: 807-808) - by Carlo Corchia, Antonio Balata, Gian Franco Meloni and Tullio Meloni.
Aspirin-Induced Acute Haemolytic Anaemia in Glucose-6-Phosphate Dehydrogenase-Deficient Children with Systemic Arthritis (from Acta Haemat (1989) 81: 208-209) - by Tullio Meloni, Gavino Forteleoni, Augusto Ogana and Vannina Franca.
Increased Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Patients with Cholelithiasis (from Acta Haemat (1991) 85: 76-78) - by T. Meloni, G. Forteleoni, G. Noja, G. Dettori, M.A. Sale, G.F. Meloni.
Favism and Hemolytic Anemia in Glucose-6-Phosphate Dehydrogenase-Deficient Subjects in North Sardinia (from Acta Haemat (1983) 70: 83-90) - by Tullio Meloni, Gavino Forteleoni, Angelo Dore and Stefano Cutillo.
Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency (from Clinical Biochemistry 40 (2007) 856–858) - by Angelo Minucci, Paola Concolino, Mirca Antenucci, Concetta Santonocito, Franco Ameglio, Cecilia Zuppi, Bruno Giardina, Ettore Capoluongo
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms (from Human Molecular Genetics, 2011) - by Francesca Fusco, Mariateresa Paciolla, Federico Napolitano, Alessandra Pescatore, Irene D’Addario, Elodie Bal, Maria Brigida Lioi, Asma Smahi, Maria Giuseppina Miano and Matilde Valeria Ursini [courtesy of Dr. Matilde Valeria Ursini]
G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications (from British Journal of Haematology, February 2014) - by Lucio Luzzatto, Elisa Seneca.
Discussing how G6PD testing can be done reconciling safety with cost; this is once again becoming of public health importance, as more countries are moving along the pathway of malaria elimination, that might require mass administration of primaquine. Also sketching the triangular relationship between malaria, antimalarials such as primaquine, and G6PD deficiency: which is to some extent protective against malaria, but also a genetically determined hazard when taking primaquine.
G6PD deficiency: the genotype-phenotype association (from Blood Reviews Volume 21, Issue 5, September 2007, Pages 267–283) - by Philip J Masona, José M Bautistab, Florinda Gilsanzc.
A review of the biochemical and clinical effect of deficiency variants in light of the recently obtained crystal structure of G6PD 10, 11 and 12 and a discussion of the relationship between genotype and phenotype.
Glucose-6-phosphate dehydrogenase deficiency (from Lancet 2008, 371: 64-74) - by Cappellini MD, Fiorelli G.
An updated review of the deficiency.
Study of Glucose-6-Phosphate Dehydrogenase Deficiency: 5 Years Retrospective Egyptian Study - Published on the PubMed website on October 3, 2017. Please note it refers to Egyptian patients, of the Mediterranean variant. Other variants may not be affected the same way.
Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence (from Human Genome Variation (2018) 5, 17057; doi:10.1038/hgv.2017.57; published online 4 January 2018) - by Giulia Canu, Giorgia Mazzuccato, Andrea Urbani and Angelo Minucci.

G6PD and cardiovascular diseases

Molecular Pathways of Endothelial Dysfunction and Possible Therapeutic Interventions (AHA Scientific Sessions 2003; published on Cardiosource, Web site of the American College of Cardiology) - by Bernard J. Gersh, MB ChB D Phil, FACC, Joseph Loscalzo, MD, FACC.
Atherogenic Risk: Metabolic Markers (published on Cardiosource, Web site of the American College of Cardiology) - by Joseph Loscalzo, M.D., Ph.D, F.A.C.C.
Methaemoglobinaemia after cardiac catheterisation: a rare cause of cyanosis (from Heart 2004;90:e51) - by L Kaendler, A Dorszewski and I Daehnert (Heart Centre, University of Leipzig, Leipzig, Germany).

Dehydroepiandrosterone (DHEA) and G6PD Deficiency

Collection of articles published on the PubMed: A Service of the National Library of Medicine and the National Institutes of Health

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