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Orphanet Journal of Rare Diseases|June 29, 2019
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?Nadirah Damseh, Jennifer Stimec, Alan O'Brien, et al.
Orphanet Journal of Rare Diseases|April 27, 2019
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures reviewFang Peng, Yi-Min Sun, Chao Quan, et al.
Orphanet Journal of Rare Diseases|April 27, 2019
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature reviewShelagh M Szabo, Ioannis C Tomazos, Anna Petryk, et al.
Orphanet Journal of Rare Diseases|July 10, 2019
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic reviewXiaomu Kong, Lingding Xie, Haiqing Zhu, et al.
Orphanet Journal of Rare Diseases|July 10, 2019
Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVERLucas H P Bernts, David E J Jones, Marleen M Kaatee, et al.
Orphanet Journal of Rare Diseases|July 10, 2019
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative dataElsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, et al.
Orphanet Journal of Rare Diseases|May 5, 2019
Burden of adult neurofibromatosis 1: development and validation of a burden assessment toolMarie-Laure Armand, Charles Taieb, Aline Bourgeois, et al.
Orphanet Journal of Rare Diseases|May 5, 2019
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective studyAfshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, et al.
Orphanet Journal of Rare Diseases|May 6, 2019
Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in BelgiumLiese Vandeborne, Eline van Overbeeke, Marc Dooms, et al.
Orphanet Journal of Rare Diseases|June 30, 2019
The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trustBeni Gómez-Zúñiga, Rafael Pulido Moyano, Modesta Pousada Fernández, et al.
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