Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-012-9519-5
Reference11 articles.
1. Amendt BA, Rhead WJ (1986) The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. J Clin Investig 72:208–213
2. Anand G, Hasan N, Jayapal S et al (2012) Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol 54:187–189
3. Bosch AM, Abeling NG, 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 34:159–164
4. De Visser M, Scholte HR, Schutgens RBH et al (1986) Riboflavin-responsive lipid storage myopathy and glutaric aciduria type II of early adult onset. Neurology 36:367–372
5. DiDonato S, Gellera C, Peluchetti D et al (1989) Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy. Ann Neurol 25:479–484
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