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Riboflavin transporter mangel (Brown-Vialetto-Van Laere syndrom)

Sist oppdatert: Publisert:
  1. Bashford JA, Chowdhury FA, Shaw CE. Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. Pract Neurol 2017. pmid:27777325 PubMed  
  2. Cali E, Dominik N, Manole A, Houlden H. Riboflavin Transporter Deficiency. 2015 Jun 11 updated 2021 Apr 8. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® Internet. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 26072523. PubMed  
  3. Gedik Soyuyuce O, Ayanoglu Aksoy E, Yapici Z. A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency). Int J Audiol. 2021 May 13:1-7. PMID: 33983862. PubMed  
  4. Carreau C, Lenglet T, Mosnier I, Lahlou G, Fargeot G, Weiss N, Demeret S, Salachas F, Veauville-Merllié A, Acquaviva C, Nadjar Y. A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. Ann Clin Transl Neurol 2020. pmid:32022482 PubMed  
  5. Carreau C, Benoit C, Ahle G, Cauquil C, Roubertie A, Lenglet T, Cosgrove J, Meunier I, Veauville-Merllié A, Acquaviva-Bourdain C, Nadjar Y. Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies. J Neurol Neurosurg Psychiatry. 2020 Oct 21:jnnp-2020-323304. PMID: 33087424. PubMed  
  6. Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, et al. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?. Parkinsonism Relat Disord. 2018. PMID: 30343981 PubMed