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Orphanet Journal of Rare Diseases|October 17, 2021
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1AShahram Attarian, Peter Young, Thomas H Brannagan, et al.
Orphanet Journal of Rare Diseases|September 21, 2018
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactionsHugh-Owen Colhoun, Estela M Rubio Gozalbo, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases|October 1, 2018
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of ageAnia C Muntau, Marcel du Moulin, Francois Feillet
Orphanet Journal of Rare Diseases|August 30, 2018
Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasetsAnnie Ting Gee Chiu, Claudia Ching Yan Chung, Wilfred Hing Sang Wong, et al.
Orphanet Journal of Rare Diseases|October 13, 2018
Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programmeAlice Bessey, James B Chilcott, Joanna Leaviss, et al.
Orphanet Journal of Rare Diseases|March 3, 2022
Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVAIain A Bruce, Fatih S Ezgü, Christoph Kampmann, et al.
Orphanet Journal of Rare Diseases|March 3, 2022
Neurological signs, symptoms and MRI abnormalities in patients with congenital melanocytic naevi and evaluation of routine MRI-screening: systematic review and meta-analysisAnne C Fledderus, Anna Linn Widdershoven, Oren Lapid, et al.
Orphanet Journal of Rare Diseases|February 24, 2022
Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019Sarah J Howe, David Lapidus, Michael Hull, et al.
Orphanet Journal of Rare Diseases|March 10, 2022
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseasesWolfgang H Ziegler, Sarah Lüdiger, Fatima Hassan, et al.
Orphanet Journal of Rare Diseases|March 6, 2022
Physicians' knowledge on specific rare diseases and its associated factors: a national cross-sectional study from ChinaHuanyu Zhang, Ying Xiao, Xinyue Zhao, et al.
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