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

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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

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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

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