
Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations
Keywords: ADSL; adenylosuccinate lyase; WT; wild type; SAICAR; succinylaminoimidazolecarboxamide ribonucleotide; AICAR; aminoimidazolecarboxamide ribotide; SAMP; succinyladenosine monophosphate; AMP; adenosine monophosphate; PMR; psychomotor retardation; SAICAr; su