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

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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

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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

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