A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood‐onset motor neuron disease (MND) with hearing loss, formerly described as Brown‐Vialetto‐Van‐Lear syndrome. We describe a 18‐year‐old woman with probable RTD mimicking juvenile Amyotrophic La...

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Detalles Bibliográficos
Autores principales: Carreau, Christophe, Lenglet, Timothée, Mosnier, Isabelle, Lahlou, Ghizlene, Fargeot, Guillaume, Weiss, Nicolas, Demeret, Sophie, Salachas, François, Veauville‐Merllié, Alice, Acquaviva, Cécile, Nadjar, Yann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034506/
https://www.ncbi.nlm.nih.gov/pubmed/32022482
http://dx.doi.org/10.1002/acn3.50977

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034506/
https://www.ncbi.nlm.nih.gov/pubmed/32022482
http://dx.doi.org/10.1002/acn3.50977

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