Orphanet Journal of Rare Diseases

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

RESEARCH

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

Hao Chen, Xin Li, Xiaoliang Liu, Jian Wang, Zhen Zhang, Jinjin Wu, Meirong Huang, Ying Guo, Fen Li, Xiumin Wang and Lijun Fu

Orphanet Journal of Rare Diseases 2019, 14:29 | Published on: 7 February 2019

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RESEARCH

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten and Stefan A. Kolb

Orphanet Journal of Rare Diseases 2019, 14:32 | Published on: 7 February 2019

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RESEARCH

Disease progression in women with X-linked adrenoleukodystrophy is slow

Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp and Marc Engelen

Orphanet Journal of Rare Diseases 2019, 14:30 | Published on: 7 February 2019

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RESEARCH

The patient’s view on rare disease trial design – a qualitative study

C. M. W. Gaasterland, M. C. Jansen – van der Weide, M. J. du Prie – Olthof, M. Donk, M. M. Kaatee, R. Kaczmarek, C. Lavery, K. Leeson-Beevers, N. O’Neill, O. Timmis, V. van Nederveen, E. Vroom and J. H. van der Lee

Orphanet Journal of Rare Diseases 2019, 14:31 | Published on: 7 February 2019

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