Improved method for the determination of blood glutathione.
Red Cell Metabolism: A Manual of Biochemical Methods
- E. Beutler
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
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.
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.
The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration?
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.
Gaucher Disease: Clinical, Laboratory, Radiologic, and Genetic Features of 53 Patients
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.
A missense mutation in human fatty acid amide hydrolase associated with problem drug use
- J. Sipe, K. Chiang, A. Gerber, E. Beutler, B. Cravatt
- BiologyProceedings of the National Academy of Sciences…
- 11 June 2002
It is suggested that genetic mutations in FAAH may constitute important risk factors for problem drug use and support a potential link between functional abnormalities in the endogenous cannabinoid system and drug abuse and dependence.