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Orphanet Journal of Rare Diseases|December 1, 2014
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 casesElena Martín-Hernández, Luis Aldámiz-Echevarría, Esperanza Castejón-Ponce, et al.
Orphanet Journal of Rare Diseases|November 29, 2014
Pregnancy complications in acquired thrombotic thrombocytopenic purpura: a case-control studyBarbara Ferrari, Alberto Maino, Luca A Lotta, et al.
Orphanet Journal of Rare Diseases|November 29, 2014
Glycogen storage disease type III: modified Atkins diet improves myopathySebene Mayorandan, Uta Meyer, Hans Hartmann, et al.
Orphanet Journal of Rare Diseases|October 30, 2014
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexEiko Nagata, Hiroki Kano, Fumiko Kato, et al.
Orphanet Journal of Rare Diseases|November 19, 2013
Funding innovation for treatment for rare diseases: adopting a cost-based yardstick approachGarret Kent Fellows, Aidan Hollis
Orphanet Journal of Rare Diseases|February 1, 2018
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous systemL Marti-Sanchez, J D Ortigoza-Escobar, A Darling, et al.
Orphanet Journal of Rare Diseases|October 20, 2017
Cognitive impairment profile in adult patients with Niemann pick type C diseaseCamille Heitz, Stéphane Epelbaum, Yann Nadjar
Orphanet Journal of Rare Diseases|January 17, 2018
Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population studyJussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, et al.
Orphanet Journal of Rare Diseases|December 13, 2017
A novel mutation of HOXA11 in a patient with septate uterusYing Zhu, Zhi Cheng, Jing Wang, et al.
Orphanet Journal of Rare Diseases|December 15, 2017
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe diseaseTim A Kanters, Ans T van der Ploeg, Michelle E Kruijshaar, et al.
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