TY  - GEN
AU  - Lisyová,Jana
AU  - Chandoga,Ján
AU  - Jungová,Petra
AU  - Repiský,Marcel
AU  - Knapková,Mária
AU  - Machková,Martina
AU  - Dluholucký,Svetozár
AU  - Behúlová,Darina
AU  - Šaligová,Jana
AU  - Potočňáková,Ľudmila
AU  - Lysinová,Miroslava
AU  - Böhmer,Daniel
TI  - 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
SN  - 1471-2350
PY  - 2019///0225
KW  - Acyl-CoA Dehydrogenase
KW  - deficiency
KW  - Butyryl-CoA Dehydrogenase
KW  - genetics
KW  - Carnitine
KW  - analogs & derivatives
KW  - Ethnicity
KW  - Female
KW  - Gene Frequency
KW  - Genetic Testing
KW  - Humans
KW  - Infant, Newborn
KW  - Lipid Metabolism, Inborn Errors
KW  - ethnology
KW  - Male
KW  - Mutation
KW  - Neonatal Screening
KW  - methods
KW  - Polymorphism, Restriction Fragment Length
KW  - Sequence Analysis, DNA
KW  - Slovakia
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1186/s12881-018-0566-0
ER  -