Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme. [electronic resource]
Producer: 19730926Description: 2068-74 p. digitalISSN:- 0021-9738
- 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
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Publication Type: Journal Article
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