Orphanet Journal of Rare Diseases

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

RESEARCH

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová and Pavel Seeman

Orphanet Journal of Rare Diseases 2018, 13:71 | Published on: 2 May 2018

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LETTER TO THE EDITOR

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne and Isabelle Meyts

Orphanet Journal of Rare Diseases 2018, 13:69 | Published on: 2 May 2018

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REVIEW

GNE myopathy: from clinics and genetics to pathology and research strategies

Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller and Andreas Roos

Orphanet Journal of Rare Diseases 2018, 13:70 | Published on: 2 May 2018

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RESEARCH

Individualized approach to the surgical management of fibrous dysplasia of the proximal femur

Bas C. J. Majoor, Andreas Leithner, Michiel A. J. van de Sande, Natasha M. Appelman-Dijkstra, Neveen A. T. Hamdy and P. D. Sander Dijkstra

Orphanet Journal of Rare Diseases 2018, 13:72 | Published on: 2 May 2018

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