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Adenylosuccinate Lyase Deficiency — First British Case

✍ Scribed by A. M. Marinaki; M. Champion; M. A. Kurian; H. A. Simmonds; S. Marie; M. F. Vincent; G. van den Berghe; J. A. Duley; L. D. Fairbanks

Publisher
John Wiley and Sons
Year
2005
Weight
8 KB
Volume
36
Category
Article
ISSN
0931-7597

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✦ Synopsis

Abstract

For Abstract see ChemInform Abstract in Full Text.

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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