Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-016-9924-2.pdf
Reference29 articles.
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2. Bandettini Di Poggio M, Monti Bragadin M, Reni L et al (2014) Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. Amyotroph Lateral Scler Frontotemporal Degener 15:141–4
3. Bosch AM, Abeling NGG, Ijlst L et al (2011) 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. J Inherit Metab Dis 34:159–64
4. Bosch AM, Stroek K, Abeling NG et al (2012) The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 7:83
5. Carrozzo R, Torraco A, Fiermonte G et al (2014) Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2. Mitochondrion 18:49–57
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