TY  - GEN
AU  - Dancis,J
AU  - Yip,L C
AU  - Cox,R P
AU  - Piomelli,S
AU  - Balis,M E
TI  - Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme
SN  - 0021-9738
PY  - 1973///0926
KW  - Adolescent
KW  - Carbon Isotopes
KW  - Diphosphates
KW  - Epilepsy, Tonic-Clonic
KW  - etiology
KW  - Erythrocytes
KW  - enzymology
KW  - Genotype
KW  - Glucosephosphate Dehydrogenase Deficiency
KW  - complications
KW  - Heterozygote
KW  - Humans
KW  - Hypoxanthines
KW  - metabolism
KW  - Inosine Nucleotides
KW  - Intellectual Disability
KW  - Lesch-Nyhan Syndrome
KW  - Leukocytes
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - blood
KW  - Mosaicism
KW  - Pedigree
KW  - Pentosyltransferases
KW  - Temperature
KW  - Uric Acid
KW  - urine
KW  - Xanthines
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1172/JCI107391
ER  -