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Orphanet Journal of Rare Diseases|December 14, 2012
Amyloidosis cutis dyschromicaJianjun Qiao, Hong Fang, Hongtian Yao
Orphanet Journal of Rare Diseases|December 12, 2012
Establishing a network of specialist Porphyria centres - effects on diagnostic activities and servicesMette C Tollånes, Aasne K Aarsand, Jørild Haugen Villanger, et al.
Orphanet Journal of Rare Diseases|January 15, 2013
Recommendations for the management of tyrosinaemia type 1Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, et al.
Orphanet Journal of Rare Diseases|October 4, 2014
Natural history of angiomyolipoma in lymphangioleiomyomatosis: implications for screening and surveillanceZhao W Yeoh, Vidya Navaratnam, Rupesh Bhatt, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trialLaurence Lion-François, François Gueyffier, Catherine Mercier, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
Orphanet Journal of Rare Diseases|October 12, 2014
Nationwide patient registry for GNE myopathy in JapanMadoka Mori-Yoshimura, Yukiko K Hayashi, Naohiro Yonemoto, et al.
Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
Orphanet Journal of Rare Diseases|June 7, 2013
Monoclonal antibodies to 65kDa glutamate decarboxylase induce epitope specific effects on motor and cognitive functions in ratsChristiane S Hampe, Laura Petrosini, Paola De Bartolo, et al.
Orphanet Journal of Rare Diseases|June 18, 2013
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencingTao Yang, Xiaoming Wei, Yongchuan Chai, et al.
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