Orphanet Journal of Rare Diseases

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

RESEARCH

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller and Janbernd Kirschner

Orphanet Journal of Rare Diseases 2019, 14:18 | Published on: 21 January 2019

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RESEARCH

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth and Jill M. Weimer

Orphanet Journal of Rare Diseases 2019, 14:19 | Published on: 21 January 2019

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REVIEW

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik and Chris J Hendriksz

Orphanet Journal of Rare Diseases 2019, 14:20 | Published on: 21 January 2019

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