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 REVIEW PKU dietary handbook to accompany PKU guidelines A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani… Orphanet Journal of Rare Diseases 2020, 15:171 | Published on: 30 June 2020 Full Text | PDF RESEARCH The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala and Zulf Mughal Orphanet Journal of Rare Diseases 2020, 15:172 | Published on: 30 June 2020 Full Text | PDF RESEARCH High content drug screening for Fanconi anemia therapeutics Helena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, Maria Häggblad, Bo Lundgren, Miriam Aza-Carmona, Thomas Helleday, Jordi Minguillón and Jordi Surrallés Orphanet Journal of Rare Diseases 2020, 15:170 | Published on: 30 June 2020 Full Text | PDF

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