Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes. Case. An 11-year-old-boy presented with respiratory insufficiency and a rapi...

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Hlavní autoři:	Berna Şeker Yılmaz, Serdar Ceylaner, Neslihan Önenli Mungan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Hacettepe University Institute of Child Health 2021-04-01
Edice:	The Turkish Journal of Pediatrics
Témata:	Brown-Vialetto-Van Laere syndrome left ventricle-non compaction mitochondrial disorders riboflavin
On-line přístup:	https://turkjpediatr.org/article/view/302
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