Slovenia
University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases
Familial hypercholesterolemia, Next-generation sequencing, Universal screening, Genetic testing, Cholesterol, children
phosphoribosylpyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5