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Autor:
Amal Y. Kentab, Yara Alsalloum, Mai Labani, Abrar Hudairi, Muddathir H. Hamad, Dima Z. Jamjoom, Ali H. Alwadei, Reem M. Alhammad, Fahad A. Bashiri
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundBrown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of present
Externí odkaz:
https://doaj.org/article/64720140ac684806ac89d179edf0e67f
