Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations

Anjali B. Daniel, Vrinda Saraff, Nick J. Shaw, Robert Yates, M. Zulf Mughal and Raja Padidela

Orphanet Journal of Rare Diseases 2018, 13:142 | Published on: 16 August 2018

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RESEARCH

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp and Frances M. Platt

Orphanet Journal of Rare Diseases 2018, 13:143 | Published on: 16 August 2018

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REVIEW

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz and Luis A. Barrera

Orphanet Journal of Rare Diseases 2018, 13:141 | Published on: 16 August 2018

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RESEARCH

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Luisa Chiapparini, Barbara Garavaglia and Simona Orcesi

Orphanet Journal of Rare Diseases 2018, 13:135 | Published on: 16 August 2018

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