Associazione Italiana Favismo

Saggi, Articoli e Letteratura Scientifica

Rassegna bibliografica e studi clinici sul deficit di G6PD e favismo

Saggi e Articoli in Italiano

Italiano

Favismo: se lo conosci lo eviti - Favismo e i nuovi LEA (Livelli Essenziali di Assistenza)

18 Giugno 2016

Autore: Prof. Aldo Ferrara (Università degli Studi di Siena)

Pubblicato su Gli Stati Generali (glistatigenerali.com); ripubblicato con permesso.

Coinvolgimento del muscolo in soggetti G6PD carenti

A cura di: Lucio Luzzatto e Paolo Ninfali

Il deficit di glucosio-6-fosfato deidrogenasi: una rassegna

Lettura Consigliata

Autori: P. Marradi, D. Degani, L. Carcereri, R. Balter, L. Battisti, A. Penzo, C. Borgna Pignati (Clinica Pediatrica, Università di Verona)

Medico e Bambino 8/1993 (Include abstract in inglese e liste di farmaci/sostanze chimiche da evitare e ammesse).

Novità in tema di deficit di G6PD

Autori: Tullio Meloni, Gavino Forteleoni, Gian Franco Meloni (Clinica Pediatrica "A. Filia", Università di Sassari)

Medico e Bambino 8/1993, pp. 35-39 (Include abstract in inglese "G6PD Deficiency: Epidemiology and clinical correlations").

Per una diagnosi certa del difetto di G6PD nelle femmine emizigoti

Autori: Gavino Forteleoni, Sergio Piga, Augusto Ogana, Francesca Ena, Gian Franco Meloni (Clinica Pediatrica "A. Filia", Università di Sassari)

Medico e Bambino 8/1993, pp. 42-43 (Include abstract in inglese "The Diagnosis of G6PD Deficiency in the Hemizygote Female").

Un caso di anemia emolitica acuta

Autori: Bruno Cichetti, Egidio Barbi (Reparto di Pediatria, Ospedale Civile di S. Daniele del Friuli)

Medico e Bambino 8/1993, pp. 49-51.

Articles & Research Papers in English

English

Glucose-6-Phosphate Dehydrogenase Deficiency

State-of-the-Art (2008)

Authors: Lucio Luzzatto, Vincenzo Poggi

Comprehensive state-of-the-art report including gene therapy and practical medical advice. Published courtesy of Prof. Lucio Luzzatto.

Glucose-6-phosphate dehydrogenase deficiency and hydroxychloroquine in the COVID-19 era: a mini review

2021

Authors: Maria Elisabetta Onori, Claudio Ricciardi Tenore, Andrea Urbani, Angelo Minucci

G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications

Authors: Lucio Luzzatto, Elisa Seneca

British Journal of Haematology (Feb 2014). Focuses on safety/cost reconciliation in testing, malaria elimination, and primaquine interactions.

Glucose-6-phosphate dehydrogenase deficiency

Authors: Cappellini MD, Fiorelli G.

Lancet 2008, 371: 64-74. An updated review of the deficiency.

G6PD deficiency: the genotype-phenotype association

Authors: Philip J Masona, José M Bautistab, Florinda Gilsanzc

Blood Reviews Vol. 21, Issue 5, Sept 2007, pp. 267-283. Review of biochemical and clinical effects in light of crystal structure.

Glucose-6-Phosphate Dehydrogenase Deficiency

Author: Ernest Beutler, M.D.

Hematology (McGraw-Hill 1990, pp. 591-606). Includes complete lists of drugs and chemicals to avoid or take.

Diagnosis and Management of G6PD Deficiency

Author: Jennifer E. Frank, MAJ, MC, USA (Martin Army Community Hospital, Fort Benning, Georgia)

Published on the American Academy of Family Physicians (AAFP) website.

Glucose-6-Phosphate Dehydrogenase-Deficient Neonates: A Potential Cause for Concern in North America

Must Read for Parents

Authors: Michael Kaplan, MB, ChB and Cathy Hammerman, MD

Pediatrics. Discusses neonatal jaundice and potential resurgence of kernicterus.

Haemolysis during diabetic ketoacidosis treatment in two girls with incomplete glucose-6-phosphate dehydrogenase deficiency

Authors: Maria Katrin Errico, Brunella Iovane, Anna Bernardini, Dimitra Gliati, Chiara Scarabello, Valentina Fainardi, Giovanni Chiari, Mario Savi, Maurizio Vanelli

University and University Hospital of Parma, Italy.

Brucellosis Triggering Hemolytic Anemia in Glucose-6-Phosphate Dehydrogenase Deficiency

Authors: Gulsum Emel Pamuk, Aygul Dogan Celik, Mehmet Sevki Uyanık (Trakya University, Turkey)

Favism in a female newborn infant whose mother ingested fava beans before delivery

Authors: Carlo Corchia, Antonio Balata, Gian Franco Meloni, Tullio Meloni

The Journal of Pediatrics (1995) 127.5: 807-808.

Aspirin-Induced Acute Haemolytic Anaemia in Glucose-6-Phosphate Dehydrogenase-Deficient Children with Systemic Arthritis

Authors: Tullio Meloni, Gavino Forteleoni, Augusto Ogana, Vannina Franca

Acta Haemat (1989) 81: 208-209.

Increased Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Patients with Cholelithiasis

Authors: T. Meloni, G. Forteleoni, G. Noja, G. Dettori, M.A. Sale, G.F. Meloni

Acta Haemat (1991) 85: 76-78.

Favism and Hemolytic Anemia in Glucose-6-Phosphate Dehydrogenase-Deficient Subjects in North Sardinia

Authors: Tullio Meloni, Gavino Forteleoni, Angelo Dore, Stefano Cutillo

Acta Haemat (1983) 70: 83-90.

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

Authors: Giulia Canu, Giorgia Mazzuccato, Andrea Urbani, Angelo Minucci

Human Genome Variation (2018) 5, 17057.

Genetic discussion of G6PD (Glucose-6-Phosphate Dehydrogenase), including most variants

Published on OMIM Web site (Johns Hopkins University).

Prenatal Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency

Authors: Ernest Beutler, Wanda Kuhl, Michelle Fox, Khalil Tabsh, Barbara F. Crandall

Acta Haematologica (1992) 87:103-104.

Molecular method for prediction of severe neonatal hyperbilirubinaemia

Authors: Wong F L, Boo NY, Ainoon O, Wang M K

Description of a novel missense mutation of G6PD gene associated with asymptomatic high enzyme deficiency

Authors: Angelo Minucci, Paola Concolino, Mirca Antenucci, Concetta Santonocito, Franco Ameglio, Cecilia Zuppi, Bruno Giardina, Ettore Capoluongo

Clinical Biochemistry 40 (2007) 856-858.

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms

Authors: Francesca Fusco, Mariateresa Paciolla, Federico Napolitano, Alessandra Pescatore, Irene D'Addario, Elodie Bal, Maria Brigida Lioi, Asma Smahi, Maria Giuseppina Miano, Matilde Valeria Ursini

Human Molecular Genetics (2011).

Study of Glucose-6-Phosphate Dehydrogenase Deficiency: 5 Years Retrospective Egyptian Study

Published on PubMed (Oct 3, 2017)

Focuses on Mediterranean variant patients.

Glucose-6-phosphate dehydrogenase deficiency and cardiac surgery

Authors: N Dogra, GD Puri, SS Rana

Anaesthetic management of children undergoing cardiac surgery without haemolytic reaction.

Molecular Pathways of Endothelial Dysfunction and Possible Therapeutic Interventions

Authors: Bernard J. Gersh, Joseph Loscalzo

AHA Scientific Sessions 2003 / Cardiosource (American College of Cardiology).

Atherogenic Risk: Metabolic Markers

Author: Joseph Loscalzo, M.D., Ph.D.

Published on Cardiosource (American College of Cardiology).

Methaemoglobinaemia after cardiac catheterisation: a rare cause of cyanosis

Authors: L Kaendler, A Dorszewski, I Daehnert (Heart Centre, University of Leipzig)

Heart 2004;90:e51.

The Role of G6PD in the Clearance of Oxidant Stress Products in Muscle During Exercise

Authors: Paolino Ninfali, Nereo Bresolin

Muscle Expression Of Glucose-6-Phosphate Dehydrogenase Deficiency in Different Variants

Authors: Paolino Ninfali, Luciano Baronciani, Alessandra Bardoni, Nereo Bresolin

Redistribution of Glucose-6-Phosphate Dehydrogenase in Response to Cerebral Ischemia in Rat Brain

Authors: Rachna Agarwal, Abdelhaq Rami

Indian Journal of Clinical Biochemistry.

Dehydroepiandrosterone (DHEA) and G6PD Deficiency

Raccolta di articoli pubblicati su PubMed / National Institutes of Health.

Articoli accademici

Saggi, Articoli e Letteratura Scientifica

Saggi e Articoli in Italiano

Favismo: se lo conosci lo eviti - Favismo e i nuovi LEA (Livelli Essenziali di Assistenza)

Coinvolgimento del muscolo in soggetti G6PD carenti

Il deficit di glucosio-6-fosfato deidrogenasi: una rassegna

Novità in tema di deficit di G6PD

Per una diagnosi certa del difetto di G6PD nelle femmine emizigoti

Un caso di anemia emolitica acuta

Articles & Research Papers in English

Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-phosphate dehydrogenase deficiency and hydroxychloroquine in the COVID-19 era: a mini review

G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications

Glucose-6-phosphate dehydrogenase deficiency

G6PD deficiency: the genotype-phenotype association

Glucose-6-Phosphate Dehydrogenase Deficiency

Diagnosis and Management of G6PD Deficiency

Glucose-6-Phosphate Dehydrogenase-Deficient Neonates: A Potential Cause for Concern in North America

Haemolysis during diabetic ketoacidosis treatment in two girls with incomplete glucose-6-phosphate dehydrogenase deficiency

Brucellosis Triggering Hemolytic Anemia in Glucose-6-Phosphate Dehydrogenase Deficiency

Favism in a female newborn infant whose mother ingested fava beans before delivery

Aspirin-Induced Acute Haemolytic Anaemia in Glucose-6-Phosphate Dehydrogenase-Deficient Children with Systemic Arthritis

Increased Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Patients with Cholelithiasis

Favism and Hemolytic Anemia in Glucose-6-Phosphate Dehydrogenase-Deficient Subjects in North Sardinia

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

Genetic discussion of G6PD (Glucose-6-Phosphate Dehydrogenase), including most variants

Prenatal Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency

Molecular method for prediction of severe neonatal hyperbilirubinaemia

Description of a novel missense mutation of G6PD gene associated with asymptomatic high enzyme deficiency

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms

Study of Glucose-6-Phosphate Dehydrogenase Deficiency: 5 Years Retrospective Egyptian Study

Glucose-6-phosphate dehydrogenase deficiency and cardiac surgery

Molecular Pathways of Endothelial Dysfunction and Possible Therapeutic Interventions

Atherogenic Risk: Metabolic Markers

Methaemoglobinaemia after cardiac catheterisation: a rare cause of cyanosis

The Role of G6PD in the Clearance of Oxidant Stress Products in Muscle During Exercise

Muscle Expression Of Glucose-6-Phosphate Dehydrogenase Deficiency in Different Variants

Redistribution of Glucose-6-Phosphate Dehydrogenase in Response to Cerebral Ischemia in Rat Brain

Dehydroepiandrosterone (DHEA) and G6PD Deficiency

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