@article{84267dfb3251402ebc9ea33e18d3755d,
title = "Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant",
keywords = "leucodystrophy, microcephaly, PYCR2",
author = "C. Spagnoli and E. Pavlidis and Salerno, {G. G.} and L. Koskinen and H. K{\"a}{\"a}ri{\"a}inen and D. Frattini and Koskenvuo, {J. W.} and C. Fusco",
year = "2019",
month = apr,
day = "1",
doi = "10.1111/ene.13817",
language = "English",
volume = "26",
pages = "e45--e46",
journal = "European Journal of Neurology",
issn = "1351-5101",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "4",
}