A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

BACKGROUND: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Biochem Med (Zagreb)
Main Authors: Lampret, Barbka Repic, Murko, Simona, Debeljak, Marusa, Tansek, Mojca Zerjav, Fister, Petja, Battelino, Tadej
Format: Artigo
Jezik:Inglês
Izdano: Croatian Society of Medical Biochemistry and Laboratory Medicine 2015
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470102/
https://ncbi.nlm.nih.gov/pubmed/26110041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11613/BM.2015.029
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