[PDF][PDF] G6PD deficiency

E Beutler - 1994 - Citeseer
T HIRTY-FIVE YEARS ago Dr William Dameshek, the first editor of the emerging journal
Blood, invited me to write a review on “The Hemolytic Effect of Primaquine.”'At the time …

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the “old” and update of the new mutations

A Minucci, K Moradkhani, MJ Hwang, C Zuppi… - Blood Cells, Molecules …, 2012 - Elsevier
In the present paper we have updated the G6PD mutations database, including all the last
discovered G6PD genetic variants. We underline that the last database has been published …

Glucose-6-phosphate dehydrogenase deficiency

L Luzzatto, M Ally, R Notaro - … Journal of the American Society of …, 2020 - ashpublications.org
Abstract Glucose 6-phosphate dehydrogenase (G6PD) deficiency is 1 of the commonest
human enzymopathies, caused by inherited mutations of the X-linked gene G6PD. G6PD …

Hematologically important mutations: glucose-6-phosphate dehydrogenase

E Beutler, TJ Vulliamy - Blood cells, molecules, and diseases, 2002 - Elsevier
A total of 140 mutations or combination of mutations of the X-linked gene for glucose-6-
phosphate dehydrogenase are now known to us. Previous tabulations, providing somewhat …

[HTML][HTML] G6PD deficiency in Latin America: systematic review on prevalence and variants

WM Monteiro, FFA Val, AM Siqueira… - Memórias do Instituto …, 2014 - SciELO Brasil
Plasmodium vivax radical cure requires the use of primaquine (PQ), a drug that induces
haemolysis in glucose-6-phosphate dehydrogenase deficient (G6PDd) individuals, which …

Study of glucose‐6‐phosphate dehydrogenase: History and molecular biology

E Beutler - American journal of hematology, 1993 - Wiley Online Library
Abstract Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency was discovered in the
1950s. The history of the development of knowledge about G6PD deficiency is reviewed …

Understanding the mechanisms for metabolism-linked hemolytic toxicity of primaquine against glucose 6-phosphate dehydrogenase deficient human erythrocytes …

S Ganesan, ND Chaurasiya, R Sahu, LA Walker… - Toxicology, 2012 - Elsevier
Therapeutic utility of primaquine, an 8-aminoquinoline antimalarial drug, has been limited
due to its hemolytic toxicity in population with glucose 6-phosphate dehydrogenase …

Variants of glucose‐6‐phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene

T Vulliamy, E Beutler, L Luzzatto - Human mutation, 1993 - Wiley Online Library
Abstract Glucose‐6‐phosphate dehydrogenase (G6PD) is remarkable for its genetic
diversity in humans. Many variants of G6PD have been described with wide ranging levels …

Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes

S Miwa, H Fujii - American journal of hematology, 1996 - Wiley Online Library
Molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic
anemia have been determined by means of molecular biology. Pyruvate kinase (PK) …

An overall view of the functional and structural characterization of glucose-6-phosphate dehydrogenase variants in the Mexican population

B Hernández-Ochoa, D Ortega-Cuellar… - International Journal of …, 2023 - mdpi.com
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting an estimated 500 million
people worldwide, is a genetic disorder that causes human enzymopathies. Biochemical …