Capillary electrophoresis for screening of adenylosuccinate lyase deficiency
✍ Scribed by Priv.-Doz. Dr. Dr. Manfred Gross; Birgit S. Gathof; Pirkko Kölle; Ursula Gresser
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 227 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0173-0835
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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
Adenylosuccinate lyase (ADSL) deficiency is neurometabolic disease characterized by accumulation of dephosphorylated enzyme substrates SAICA-riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids of affected individuals. The phenotypic severity differs considerably among patients: neonatal f