Keywords: phosphoribosylpyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5Full text (file, 2,38 MB) This document has more files! More...
Keywords: children, overweight, obesity, cholesterolFull text (file, 1,42 MB) This document has more files! More...
Keywords: tandem mass spectrometry, MS/MS, fluorometric method, FM, comparison, phenylalanine, Phe, phenylketonuria, PKU, newborn screening, NBS, false positive results, recall rateFull text (file, 2,70 MB) This document has more files! More...
Keywords: Hiperholesterolemija, Holesterol, Dislipidemija, Pediatrična populacija, Genetski vzroki za hiperholesterolemijo, Sekvenciranje naslednje generacije, Poligenska hiperholesterolemiaFull text (file, 4,75 MB)
Keywords: hipoholesterolemija, holesterol, dislipidemija, genetski vzroki hipoholesterolemije, sekvenciranje naslednje generacijeFull text (file, 5,70 MB)