Orphanet Journal of Rare Diseases

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

RESEARCH

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter

Orphanet Journal of Rare Diseases 2020, 15:87 | Published on: 10 April 2020

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RESEARCH

Natural history of lung function in spinal muscular atrophy

Camiel A. Wijngaarde, Esther S. Veldhoen, Ruben P. A. van Eijk, Marloes Stam, Louise A. M. Otto, Fay-Lynn Asselman, Roelie M. Wösten-van Asperen, Erik H. J. Hulzebos, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Inge Cuppen, Renske I. Wadman, Leonard H. van den Berg, Cornelis K. van der Ent and W. Ludo van der Pol

Orphanet Journal of Rare Diseases 2020, 15:88 | Published on: 10 April 2020

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RESEARCH

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen…

Orphanet Journal of Rare Diseases 2020, 15:89 | Published on: 10 April 2020

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RESEARCH

The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede and Claude Desnuelle

Orphanet Journal of Rare Diseases 2020, 15:90 | Published on: 10 April 2020

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