TY  - GEN
AU  - Simmonds,H A
AU  - Webster,D R
AU  - Lingam,S
AU  - Wilson,J
TI  - An inborn error of purine metabolism, deafness and neurodevelopmental abnormality
SN  - 0174-304X
PY  - 1985///0809
KW  - Deafness
KW  - genetics
KW  - Erythrocytes
KW  - analysis
KW  - Female
KW  - Guanosine Triphosphate
KW  - blood
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Male
KW  - NAD
KW  - Purine-Pyrimidine Metabolism, Inborn Errors
KW  - Ribose-Phosphate Pyrophosphokinase
KW  - Syndrome
KW  - Uric Acid
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1055/s-2008-1052552
ER  -