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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...
Autores principales: | Lampret, Barbka Repic, Murko, Simona, Debeljak, Marusa, Tansek, Mojca Zerjav, Fister, Petja, Battelino, Tadej |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Croatian Society of Medical Biochemistry and Laboratory Medicine
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470102/ https://www.ncbi.nlm.nih.gov/pubmed/26110041 http://dx.doi.org/10.11613/BM.2015.029 |
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