An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

BACKGROUND: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majori...

Descripción completa

Detalles Bibliográficos
Autores principales: Lisyová, Jana, Chandoga, Ján, Jungová, Petra, Repiský, Marcel, Knapková, Mária, Machková, Martina, Dluholucký, Svetozár, Behúlová, Darina, Šaligová, Jana, Potočňáková, Ľudmila, Lysinová, Miroslava, Böhmer, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910552/
https://www.ncbi.nlm.nih.gov/pubmed/29678161
http://dx.doi.org/10.1186/s12881-018-0566-0

Ejemplares similares

Ejemplares similares