Orphanet Journal of Rare Diseases

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

RESEARCH

GAD65 autoantibody characteristics in patients with co-occurring type 1 diabetes and epilepsy may help identify underlying epilepsy etiologies

Suvi Liimatainen, Jerome Honnorat, Sean J. Pittock, Andrew McKeon, Mario Manto, Jared R. Radtke and Christiane S. Hampe

Orphanet Journal of Rare Diseases 2018, 13:55 | Published on: 10 April 2018

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RESEARCH

Safety, effectiveness, and impact on quality of life of self-administration with plasma-derived nanofiltered C1 inhibitor (Berinert®) in patients with hereditary angioedema: the SABHA study

Andrea Zanichelli, Giulia Maria Azin, Federico Cristina, Romualdo Vacchini and Teresa Caballero

Orphanet Journal of Rare Diseases 2018, 13:51 | Published on: 10 April 2018

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RESEARCH

Fabry disease in the Spanish population: observational study with detection of 77 patients

Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro and Saida Ortolano

Orphanet Journal of Rare Diseases 2018, 13:52 | Published on: 10 April 2018

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RESEARCH

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie and Wei Zheng

Orphanet Journal of Rare Diseases 2018, 13:54 | Published on: 10 April 2018

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POSITION STATEMENT

Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins)

Saskia Ingen-Housz-Oro, Tu-Anh Duong, Benoit Bensaid, Nathalia Bellon, Nicolas de Prost, Dévy Lu, Bénédicte Lebrun-Vignes, Julie Gueudry, Emilie Bequignon, Karim Zaghbib, Gérard Royer, Audrey Colin, Giao Do-Pham, Christine Bodemer, Nicolas Ortonne, Annick Barbaud…

Orphanet Journal of Rare Diseases 2018, 13:56 | Published on: 10 April 2018

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REVIEW

Epidemiology of Sanfilippo syndrome: results of a systematic literature review

Tamás Zelei, Kata Csetneki, Zoltán Vokó and Csaba Siffel

Orphanet Journal of Rare Diseases 2018, 13:53 | Published on: 10 April 2018

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