
Pediatric neurological syndromes and inborn errors of purine metabolism
Keywords: فسفریبوسیل پیرو فسفات سنتتاز; Purine dismetabolisms; Neurological syndromes; Phosphoribosylpyrophosphate synthetase; Adenylosuccinate lyase; 5-Amino-4-imidazolecarboxamide ribotide transformylase/IMP cyclohydrolase; 5′-Nucleotidase; Adenosine deaminase; Purine nucleoside phosphorylase