Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté and Jean Mathieu Orphanet Journal of Rare Diseases 2018, 13:165 | Published on: 19 September 2018 Full Text | PDF RESEARCH Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran and Eileen P. Treacy Orphanet Journal of Rare Diseases 2018, 13:164 | Published on: 19 September 2018 Full Text | PDF

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