Titlebook: JIMD Reports, Volume 38; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in ,,on 2 of . could not be amplified by PCR, raising suspicion for a large, homozygous deletion. Subsequent copy number analysis confirmed a homozygous deletion of exon 2 in .. This is the first reported case of GM2A deficiency being caused by a whole exon deletion. We describe previously unreported ele

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,Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in ,Deficient Mictes hepatic peroxisomal fatty acid β-oxidation at the transcriptional level. In contrast, the transcriptional stimulation of . and . by Lorenzo’s oil does not cause changes in the serum fatty acid level. It seems likely that the inhibition of these elongation activities by Lorenzo’s oil results in a

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