Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant

C. Spagnoli, E. Pavlidis, G. G. Salerno, L. Koskinen, H. Kääriäinen, D. Frattini, J. W. Koskenvuo, C. Fusco

Research output: Contribution to journal › Letter

Original languageEnglish
Pages (from-to)e45-e46
JournalEuropean Journal of Neurology
Volume26
Issue number4
DOIs
Publication statusPublished - Apr 1 2019

Keywords

  • leucodystrophy
  • microcephaly
  • PYCR2

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Spagnoli, C., Pavlidis, E., Salerno, G. G., Koskinen, L., Kääriäinen, H., Frattini, D., ... Fusco, C. (2019). Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant. European Journal of Neurology, 26(4), e45-e46. https://doi.org/10.1111/ene.13817

Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant. / Spagnoli, C.; Pavlidis, E.; Salerno, G. G.; Koskinen, L.; Kääriäinen, H.; Frattini, D.; Koskenvuo, J. W.; Fusco, C.

In: European Journal of Neurology, Vol. 26, No. 4, 01.04.2019, p. e45-e46.

Research output: Contribution to journal › Letter

Spagnoli, C, Pavlidis, E, Salerno, GG, Koskinen, L, Kääriäinen, H, Frattini, D, Koskenvuo, JW & Fusco, C 2019, 'Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant', European Journal of Neurology, vol. 26, no. 4, pp. e45-e46. https://doi.org/10.1111/ene.13817
Spagnoli C, Pavlidis E, Salerno GG, Koskinen L, Kääriäinen H, Frattini D et al. Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant. European Journal of Neurology. 2019 Apr 1;26(4):e45-e46. https://doi.org/10.1111/ene.13817
Spagnoli, C. ; Pavlidis, E. ; Salerno, G. G. ; Koskinen, L. ; Kääriäinen, H. ; Frattini, D. ; Koskenvuo, J. W. ; Fusco, C. / Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant. In: European Journal of Neurology. 2019 ; Vol. 26, No. 4. pp. e45-e46.
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title = "Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant",
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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",
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