Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

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• Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs.

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1. Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

   Authors:Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng…

   Content type:Research

    

   3 August 2020

2. A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)

   Authors:Elin Haf Davies, Jean Johnston, Camilo Toro and Cynthia J. Tifft

   Content type:Research

    

   3 August 2020

3. Onset features and time to diagnosis in Friedreich’s Ataxia

   Authors:Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz…

   Content type:Research

    

   3 August 2020

4. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

   Authors:Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli and Marina Colombi

   Content type:Research

    

   31 July 2020

5. Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

   Authors:Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone and Maria Alice Donati

   Content type:Research

    

   31 July 2020