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- W2008514596 abstract "Adenylosuccinase (EC 4.3.2.2; ASase) deficiency is an autosomal recessive disorder that results in the accumulation in body fluids of two normally undetectable compounds, succinylaminoimidazole carboxamide (SAICA) riboside and succinyladenosine (S-Ado). These succinylpurines are the products of dephosphorylation, by cytosolic 5′-nucleotidase, of the two substrates of the defective enzyme.1–3 The inherited defect has been diagnosed in a small group of patients of different nationalities with psychomotor retardation and autistic features." @default.
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- W2008514596 date "1998-01-01" @default.
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- W2008514596 title "Genetic Basis of Adenylosuccinase Deficiency in an Italian Patient" @default.
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- W2008514596 doi "https://doi.org/10.1007/978-1-4615-5381-6_64" @default.
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