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Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features

✍ Scribed by Spagnoli, Carlotta; Pitt, Matthew C.; Rahman, Shamima; de Sousa, Carlos


Book ID
121781125
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
343 KB
Volume
18
Category
Article
ISSN
1090-3798

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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