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G6PD Deficiency
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Research Papers
Erythrocyte disorders
Prenatal diagnosis
Clearance of Oxidant Stress
Muscle Expression
Important Mutations
Favism in a female newborn
Aspirin-Induced Acute Haemolytic Anaemia
G6PD Deficiency in Patients with Cholelithiasis
Favism in North Sardinia
Missense Mutation of G6PD Gene
Articles and Research Papers in English:
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 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
Research Papers
Erythrocyte disorders
Prenatal diagnosis
Clearance of Oxidant Stress
Muscle Expression
Important Mutations
Favism in a female newborn
Aspirin-Induced Acute Haemolytic Anaemia
G6PD Deficiency in Patients with Cholelithiasis
Favism in North Sardinia
Missense Mutation of G6PD Gene
The Association is affiliated with
UNIAMO
, Italian Federation for Rare Diseases, which is member of
EURORDIS
, European Organization for Rare Diseases.
© 1996-
2013
by Associazione Italiana Favismo - Deficit di G6PD Onlus — C.F. 90096930277