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November 25, 2010Journal of Inherited Metabolic DiseaseOpen Access

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

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Authors

ABAnnet M. BoschNAN. G. G. M. AbelingLILodewijk IJlst

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Bosch et al. (2010) studied this question.

synapsesocial.com/papers/69dd452e7808b00a4799bf72https://doi.org/10.1007/s10545-010-9242-z
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Late‐onset riboflavin‐responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency1994 · 76 citations
  2. 2Mitochondrial fatty acid oxidation defects—remaining challenges2008 · 140 citations
  3. 3ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency2007 · 327 citations
  4. 4Brown-Vialetto-Van Laere syndrome2008 · 107 citations
  5. 5Identification and Functional Characterization of Rat Riboflavin Transporter 22009 · 136 citations