Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped de...

Descripción completa

Detalles Bibliográficos
Autores principales: An, Se Jin, Kim, Sook Za, Kim, Gu Hwan, Yoo, Han Wook, Lim, Han Hyuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177710/
https://www.ncbi.nlm.nih.gov/pubmed/28018444
http://dx.doi.org/10.3345/kjp.2016.59.11.S45

Ejemplares similares

Ejemplares similares