Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

Dancis, J

Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme. [electronic resource] - The Journal of clinical investigation Aug 1973 - 2068-74 p. digital

Publication Type: Journal Article

0021-9738

10.1172/JCI107391 doi


Adolescent
Carbon Isotopes
Diphosphates
Epilepsy, Tonic-Clonic--etiology
Erythrocytes--enzymology
Genotype
Glucosephosphate Dehydrogenase Deficiency--complications
Heterozygote
Humans
Hypoxanthines--metabolism
Inosine Nucleotides--metabolism
Intellectual Disability--etiology
Lesch-Nyhan Syndrome--metabolism
Leukocytes--enzymology
Male
Metabolism, Inborn Errors--blood
Mosaicism
Pedigree
Pentosyltransferases--metabolism
Temperature
Uric Acid--urine
Xanthines--urine