Tumiene, BirutePeters, HarmMelegh, BélaPeterlin, BorutUtkus, AlgirdasFatkulina, NataljaPfliegler, GyörgyGraessner, HolmHermanns, SanjaScarpa, MaurizioBlay, Jean-YvesAshton, SharonMcKay, LucyBaynam, Gareth2023-10-052023-10-052022Orphanet Journal of Rare Diseases. -17 : 1 (2022), p. 1-20. -Orphanet J. Rare Dis. - 1750-1172. - 1750-11721750-1172https://hdl.handle.net/2437/359487folyóiratcikkopen access journalhttps://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM115092OrvostudományokElméleti orvostudományokhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02527-yszerzőhttp://dx.doi.org/10.1186/s13023-022-02527-y2023-10-0500090104570000185144302736