Simmonds, H A <br/><br/>
An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.  [electronic resource] 

 -  Neuropediatrics  May 1985 
 - 106-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0174-304X 
<br/><br/><label>Standard No.: </label>10.1055/s-2008-1052552  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Deafness--genetics<br/>Erythrocytes--analysis<br/>Female<br/>Guanosine Triphosphate--blood<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Intellectual Disability--genetics<br/>Male<br/>NAD--blood<br/>Purine-Pyrimidine Metabolism, Inborn Errors--blood<br/>Ribose-Phosphate Pyrophosphokinase--blood<br/>Syndrome<br/>Uric Acid--blood<br/>X Chromosome