Orphanet Journal of Rare Diseases

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

POSITION STATEMENT

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arunde, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton…

Orphanet Journal of Rare Diseases 2019, 14:139 | Published on: 13 June 2019

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RESEARCH

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang and Shuan-Pei Lin

Orphanet Journal of Rare Diseases 2019, 14:140 | Published on: 13 June 2019

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RESEARCH

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens and Fransiska Malfait

Orphanet Journal of Rare Diseases 2019, 14:138 | Published on: 13 June 2019

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RESEARCH

The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies

Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Ryuta Asada, Hiroya Hashimoto and Toshiyuki Fukao

Orphanet Journal of Rare Diseases 2019, 14:141 | Published on: 13 June 2019

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RESEARCH

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…

Orphanet Journal of Rare Diseases 2019, 14:137 | Published on: 13 June 2019

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RESEARCH

Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study

Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans and Panayiotis K. Yiallouros

Orphanet Journal of Rare Diseases 2019, 14:142 | Published on: 13 June 2019

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