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Title : Orphanet Journal of Rare Diseases | Home page
link : Orphanet Journal of Rare Diseases | Home page

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 International practices in the dietary management of fructose 1-6 biphosphatase deficiency A. Pinto, M. Alfadhel, R. Akroyd, Y. Atik Altınok, S. M. Bernabei, L. Bernstein, G. Bruni, G. Caine, E. Cameron, R. Carruthers, B. Cochrane, A. Daly, F. de Boer, S. Delaunay, A. Dianin, M. Dixon… Orphanet Journal of Rare Diseases 2018, 13:21 | Published on: 25 January 2018 Full Text | PDF RESEARCH PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H.-Werner Mewes, Matthias Arnold and Andreas Ruepp Orphanet Journal of Rare Diseases 2018, 13:22 | Published on: 25 January 2018 Full Text | PDF RESEARCH The progression rate of spinocerebellar ataxia type 2 changes with stage of disease Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti and Laura Bannach Jardim Orphanet Journal of Rare Diseases 2018, 13:20 | Published on: 25 January 2018 Full Text | PDF

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