𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease – treatable motor neuron diseases of childhood

✍ Scribed by Carlotta Spagnoli; Carlos De Sousa


Book ID
111647556
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
182 KB
Volume
54
Category
Article
ISSN
0012-1622

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Brown-Vialetto-Van Laere and Fazio Londe
✍ Annet M. Bosch; Nico G. G. M. Abeling; Lodewijk IJlst; Hennie Knoester; W. Ludo 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 114 KB

We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation