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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease multiple acyl-coa dehydrogenase deficiency
Comorbidity C0796274|brown-vialetto-van laere syndrome
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PubMedID- 24253200 Furthermore, the recognition of abnormal acylcarnitine profiles mimicking multiple acyl-coa dehydrogenase deficiency in patients with brown-vialetto-van laere syndrome (bosch et al., 2011) has elucidated a link between the putative function of slc52a3 and slc52a2 as riboflavin transporters and this neurodegenerative condition.

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