E. Beutler

Publications1,038
h-index108
Citations54,497
Highly Influential Citations1,518
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Improved method for the determination of blood glutathione.
Red Cell Metabolism: A Manual of Biochemical Methods
Red cell metabolism
Resume Au cours des quinze dernieres annees l'attention s'est beaucoup plus portee sur les enzymopathies hereditaires du globule rouge entrainant une anemie hemolytique que sur les deficits… Expand
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
TLDR
It is suggested that the unstable UGT1A1 polymorphism may serve to "fine-tune" the plasma bilirubin level within population groups, maintaining it at a high enough level to provide protection against oxidative damage, but at a level that is sufficiently low to prevent kernicterus in infants. Expand
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
TLDR
The normal age distribution of people with the haemochromatosis genotype, and the lack of symptoms in patients of all ages, indicate that the penetrance of hereditary haemosynthesis is much lower than generally thought. Expand
G6PD deficiency.
The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration?
TLDR
The diagnosis of anemia is an important aspect of the practice of hematology and unless earlier blood counts are available, the physician must make his or her decision on the basis of the population distribution of hemoglobin values. Expand
The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.
TLDR
The magnitude and variation in global, regional, and country-level prevalence rates of G6PD deficiency are of public health import, particularly in planning programs to improve neonatal health and in the distribution of various medications, especially antimalarial drugs, as G6 PD deficiency is most prevalent in malaria-endemic areas. Expand
The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency
TLDR
The mask phenotype results from reduced absorption of dietary iron caused by high levels of hepcidin and is due to a splicing defect in the transmembrane serine protease 6 gene Tmprss6, an essential component of a pathway that detects iron deficiency and blocks Hamp transcription, permitting enhanced dietary iron absorption. Expand
Gaucher Disease: Clinical, Laboratory, Radiologic, and Genetic Features of 53 Patients
TLDR
Repeated follow-up examinations in 29 patients revealed that in the majority of the patients, progression of the disease occurs during childhood, adolescence, or early adulthood with a marked tendency for stabilization thereafter, suggesting that Gaucher disease in most of the Patients is not a relentless progressive disorder but a rather stable disorder during adulthood. Expand
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