𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel MRI and clinical findings in a boy with adenylosuccinate lyase deficiency

✍ Scribed by Monika Bekiesinska-Figatowska; Krystyna Szymanska; Bogna Schmidt-Sidor; Hanna Mierzewska; Anna Bogdanska; Katarzyna Kusmierska; Anna Romaniuk-Doroszewska

Book ID
116441861
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
439 KB
Volume
71
Category
Article
ISSN
1571-4675

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

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