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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

✍ Scribed by Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst, Ronald JA Wanders


Book ID
119911464
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
224 KB
Volume
7
Category
Article
ISSN
1750-1172

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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