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Novel features in the evolution of adenylosuccinate lyase deficiency

✍ Scribed by Belén Pérez-Dueñas; Ángela Sempere; Jaume Campistol; Itziar Alonso-Colmenero; María Díez; Verónica González; Begoña Merinero; Lourdes R. Desviat; Rafael Artuch


Book ID
113590672
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
730 KB
Volume
16
Category
Article
ISSN
1090-3798

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Prenatal diagnosis in adenylosuccinate l
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Adenylosuccinate lyase deficiency, an autosomal recessive inborn error of purine synthesis, provokes accumulation in body fluids of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrates of the enzyme. Most patients display severe psy