Orphanet Journal of Rare Diseases

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

RESEARCH

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller

Orphanet Journal of Rare Diseases 2018, 13:211 | Published on: 26 November 2018

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RESEARCH

Immune cell phenotype and functional defects in Netherton syndrome

Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi and Annamari Ranki

Orphanet Journal of Rare Diseases 2018, 13:213 | Published on: 26 November 2018

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RESEARCH

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau…

Orphanet Journal of Rare Diseases 2018, 13:212 | Published on: 26 November 2018

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