𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new diagnostic technique for adenylosuccinate lyase deficiency

✍ Scribed by V. D. Domkin; T. A. Lazebnik; A. Yu. Roundeff; M. N. Smirnov

Book ID
104899396
Publisher
Springer
Year
1995
Tongue
English
Weight
240 KB
Volume
18
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Adenylosuccinate Lyase Deficiency β€” Firs
Adenylosuccinate Lyase Deficiency β€” First British Case
✍ A. M. Marinaki; M. Champion; M. A. Kurian; H. A. Simmonds; S. Marie; M. F. Vince πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons βš– 8 KB

## Abstract For Abstract see ChemInform Abstract in Full Text.

Prenatal diagnosis in adenylosuccinate l
Prenatal diagnosis in adenylosuccinate lyase deficiency
✍ Sandrine Marie; Jolanda W. A. M. Flipsen; Marinus Duran; Bwee Tien Poll-The; Fri πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 73 KB πŸ‘ 2 views

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

In vivo proton MR spectroscopy findings
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency
✍ M. Henneke; S. Dreha-Kulaczewski; K. Brockmann; M. van der Graaf; M. A. A. P. Wi πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 125 KB

## 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