DMCA
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine
by Unknown Authors
BibTeX
@MISC{_progresstowards,
author = {},
title = {Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine},
year = {}
}
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Abstract
A rhodamine based boronic acid linearly responds to increasing 5-aminoimidazole-4-carboxamide riboside (AICAr) concentrations in human urine. This method is thus an advance in detecting adenylosuccinate lyase (ADSL) deficiency as AICAr is a model riboside for the ADSL substrates succinyladenosine (S-Ado) and succinylaminoimidazolecarboxamide riboside (SAICAr). ADSL deficiency is a rare but devastating disease of de novo purine synthesis in infants. Its diagnosis is also significant as it is one of the autism spectrum disorders.
