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Orphanet Journal of Rare Diseases|June 17, 2020
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosisKeqiang Liu, Wenshuai Xu, Meng Xiao, et al.
Orphanet Journal of Rare Diseases|August 20, 2022
Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire surveyFumio Takano, Kaori Ueda, Daniel A Godefrooij, et al.
Orphanet Journal of Rare Diseases|November 19, 2021
Scientific evidence based rare disease research discovery with research funding data in knowledge graphQian Zhu, Ðắc-Trung Nguyễn, Timothy Sheils, et al.
Orphanet Journal of Rare Diseases|November 19, 2021
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancyElodie Mareux, Martine Lapalus, Amel Ben-Saad, et al.
Orphanet Journal of Rare Diseases|November 23, 2021
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromesKatherine Ellis, Jo Moss, Chrysi Stefanidou, et al.
Orphanet Journal of Rare Diseases|December 21, 2021
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patientsTim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, et al.
Orphanet Journal of Rare Diseases|December 21, 2021
Clinical, humanistic, and economic burden of severe haemophilia B in adults receiving factor IX prophylaxis: findings from the CHESS II real-world burden of illness study in EuropeTom Burke, Sohaib Asghar, Jamie O'Hara, et al.
Orphanet Journal of Rare Diseases|December 5, 2021
Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in JapanRieko Sagara, Masahide Ishigaki, Manami Otsuka, et al.
Orphanet Journal of Rare Diseases|December 5, 2021
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screeningYiming Lin, Bangbang Lin, Yanru Chen, et al.
Orphanet Journal of Rare Diseases|December 5, 2021
Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis IIKaren S Yee, Yanyu Wu, Magdalena Harrington, et al.
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