An inborn error of purine metabolism, deafness and neurodevelopmental abnormality. [electronic resource]
Producer: 19850809Description: 106-8 p. digitalISSN:- 0174-304X
- Deafness -- genetics
- Erythrocytes -- analysis
- Female
- Guanosine Triphosphate -- blood
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability -- genetics
- Male
- NAD -- blood
- Purine-Pyrimidine Metabolism, Inborn Errors -- blood
- Ribose-Phosphate Pyrophosphokinase -- blood
- Syndrome
- Uric Acid -- blood
- X Chromosome
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Publication Type: Case Reports; Journal Article
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