Lisyová, Jana <br/><br/>
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.  [electronic resource] 

 -  BMC medical genetics  04 2018 
 - 64 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-018-0566-0  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acyl-CoA Dehydrogenase--deficiency<br/>Butyryl-CoA Dehydrogenase--genetics<br/>Carnitine--analogs & derivatives<br/>Ethnicity--genetics<br/>Female<br/>Gene Frequency<br/>Genetic Testing<br/>Humans<br/>Infant, Newborn<br/>Lipid Metabolism, Inborn Errors--ethnology<br/>Male<br/>Mutation<br/>Neonatal Screening--methods<br/>Polymorphism, Restriction Fragment Length<br/>Sequence Analysis, DNA<br/>Slovakia--ethnology