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Biochemical and Molecular Genetic Correlation in Adenylosuccinate Lyase Deficiency

✍ Scribed by Salerno, C.; Crifò, C.

Book ID
111924701
Publisher
Taylor and Francis Group
Year
2004
Tongue
English
Weight
84 KB
Volume
23
Category
Article
ISSN
0732-8311

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## Abstract Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder affecting predominantly the central nervous system. The disease is characterized by the accumulation of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S‐Ado) in tissue and body fluids. Three c