Keywords: alfa galaktozidaza, Fabryeva bolezen, zdravljenje, statistične metode, reagenti, mutacije v genu GLAFull text (outside link)
Keywords: tyrosinemia, fumarylacetoacetate hydrolase, nitisinone, dried blood spot, succinylacetone, intronic variantFull text (file, 1,10 MB) This document has more files! More...
Keywords: plazma, metoda IEC s spost kolonsko derivatizacijo, metoda LC-MS/MS, aminoacidopatije, biološki vzorci, tandemska masna spektrometrija, aminokisline, masna spektrometrijaFull text (outside link)
Keywords: kortizol, psihosocialni stres, stresni odziv, vzorci sline, masna spektroskopija, sladkorna bolezen tip 1Full text (outside link)
Keywords: 3-MGA-I, 3-methylglutaconic aciduria type 1, precocious puberty, AUH gene, GnRH agonist, triptorelinFull text (file, 497,33 KB) 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...