Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency-Reference-Cited by-同舟云学术

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency

Published:2016-02-25 Issue:8 Volume:58 Page:848-854
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Menezes Manoj P¹,O'Brien Katherine²,Hill Mandy³,Webster Richard¹,Antony Jayne¹,Ouvrier Robert¹,Birman Catherine⁴,Gardner-Berry Kirsty³

Affiliation:

1. Institute for Neuroscience and Muscle Research and Discipline of Paediatrics and Child Health; The Children's Hospital at Westmead; Sydney NSW Australia

2. Department of Audiology; The Children's Hospital at Westmead; Sydney NSW Australia

3. Sydney Cochlear Implant Centre; Sydney NSW Australia

4. Department of ENT and Discipline of Paediatrics and Child Health; The Children's Hospital at Westmead; Sydney NSW Australia

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/dmcn.13084/fullpdf

Reference48 articles.

1. Brown-Vialetto-Van Laere syndrome;Sathasivam;Orphanet J Rare Dis,2008

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. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease;Johnson;Brain,2012

4. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2;Foley;Brain,2014

5. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome;Haack;J Inherit Metab Dis,2012

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1. Long‐term outcomes in children with riboflavin transporter deficiency and surveillance recommendations;Developmental Medicine & Child Neurology;2024-09-09

2. Diffusion-Weighted Magnetic Resonance Imaging (dMRI) and Cochlear Implant Outcomes in Axonal Auditory Neuropathy: A Case Report;Journal of Clinical Medicine;2024-05-24

3. Sudden Onset Auditory Neuropathy Spectrum Disorder: A Rare Case Report of Brown Vialetto Van Laere Syndrome;Indian Journal of Otolaryngology and Head & Neck Surgery;2023-09-11

4. Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency;Journal of the Peripheral Nervous System;2023-08-24

5. A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome;American Journal of Case Reports;2023-08-17