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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| Principais autores: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Hacettepe University Institute of Child Health
2021-04-01
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| Serier: | The Turkish Journal of Pediatrics |
| Fag: | |
| Online adgang: | https://turkjpediatr.org/article/view/302 |
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