Adult onset Brown–Vialetto–Van Laere syndrome with opsoclonus and a novel heterozygous mutation: A case report
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Surgery
Reference7 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. Brown–Vialetto–Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54;Green;Am J Hum Genet,2010
3. Brown–Vialetto–Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment;Bosch;J Inherit Metab Dis,2011
4. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease;Johnson;Brain,2012
5. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2;Foley;Brain,2014
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1. New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases;Nutrition & Metabolism;2023-10-16
2. Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency;Journal of the Peripheral Nervous System;2023-08-24
3. Cochlear Implant in Brown–Vialetto–Van Laere Syndrome Patient;The Journal of International Advanced Otology;2022-04-07
4. Recent advances in riboflavin transporter RFVT and its genetic disease;Pharmacology & Therapeutics;2021-10
5. Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities;Neuromuscular Disorders;2021-08
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