Author:
Bulas Sabrina,Bedoukian Emma C.,O'Neil Erin C.,Krantz Ian D.,Yum Sabrina W.,Liu Grant T.,Aleman Tomas S.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Ophthalmology
Reference23 articles.
1. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives;Bosch;Orphanet J Rare Dis.,2012
2. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2;Foley;Brain,2014
3. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency;O'Callaghan;J Inherit Metab Dis.,2019
4. Brown-Vialetto-Van Laere syndrome, a Ponto-Bulbar palsy with deafness, is caused by mutations in C20orf54;Green;Am J Hum Genet.,2010
5. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease;Dipti;Brain Dev.,2005
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