Succinylpurines
National Institutes of Health
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We report on the striking variable expression of adenylosuccinate lyase (ADSL) deficiency in three patients belonging to a family…
Fumaric aciduria (McKusick 136850) due to fumarate hydratase (fumarase; EC 4.2.1.2) deficiency is a rare disease; fewer than 15…
Adenylosuccinase (ASase) deficiency provokes accumulation in body fluids of succinyl-adenosine (S-Ado) and SAICAriboside, the…
Adenylosuccinase (ASase) deficiency provokes accumulation in body fluids of succinyl-adenosine (S-Ado) and SAICAriboside, the…