Open AccessJournal Article
Genetic studies on southeastern Bantu of Mozambique. I. Variants of glucose-6-phosphate dehydrogenase.
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This article is published in American Journal of Human Genetics.The article was published on 1970-03-01 and is currently open access. It has received 37 citations till now.read more
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Journal ArticleDOI
Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates.
Frédéric B. Piel,Anand P. Patil,Rosalind E. Howes,Oscar A. Nyangiri,Peter W. Gething,Mewahyu Dewi,William H. Temperley,Thomas N. Williams,Thomas N. Williams,David J. Weatherall,Simon I. Hay +10 more
TL;DR: These estimates can help countries and the international community gauge the need for appropriate diagnoses and genetic counselling to reduce the number of neonates affected by HbS and could be used for other inherited disorders.
Book ChapterDOI
Glucose 6-phosphate dehydrogenase.
Lucio Luzzatto,G. Battistuzzi +1 more
TL;DR: G6PD is a ubiquitous enzyme that is found, as far as the authors know, in all contemporary organisms and in all tissues and can be regarded legitimately as a typical and generally essential household or housekeeping enzyme.
Journal ArticleDOI
Genetic diversity of the “Mediterranean” glucose-6-phosphate dehydrogenase deficiency phenotype
TL;DR: Of the kinetic tests applied, the most useful for differentiating the variants were those measuring utilization rates of the analogue substrates deamino-NADP, 2-deoxyglucose- 6-phosphate, and galactose-6-ph phosphate.
Journal ArticleDOI
Red Blood Cell Enzyme Disorders.
Rachael F. Grace,Bertil Glader +1 more
TL;DR: Diagnosis is critical for appropriate supportive care, monitoring, and treatment of pyruvate kinase deficiency and other glycolytic enzyme disorders, which include neonatal jaundice, chronic hemolytic anemia, gallstones, and transfusions-related and transfusion-independent iron overload.