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Orphanet Journal of Rare Diseases|June 18, 2015
Clinical and biochemical characterization of four patients with mutations in ECHS1Sacha Ferdinandusse, Marisa W Friederich, Alberto Burlina, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotypeRenzo Mignani, Gian Marco Berti, Gisella Vischini, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Complications and recurrence risks after endoscopic resection of digestive neuroendocrine tumors: a retrospective studyYuan Si, HongZhi Wu, Chao Wang, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral centerToshiya Nomura, Yohei Misumi, Masayoshi Tasaki, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registryBenoît Sanson, Abderhmane Slioui, Jérémy Garcia, et al.
Orphanet Journal of Rare Diseases|April 22, 2015
Prediction of survival for patients with pemphigus vulgaris and pemphigus foliaceus: a retrospective cohort studyAdrian Baican, Roxana Chiorean, Daniel Corneliu Leucuta, et al.
Orphanet Journal of Rare Diseases|May 31, 2015
Selective cognitive and psychiatric manifestations in Wolfram SyndromeAllison N Bischoff, Angela M Reiersen, Anna Buttlaire, et al.
Orphanet Journal of Rare Diseases|May 11, 2021
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases NetworkKimberly LeBlanc, Emily Glanton, Anna Nagy, et al.
Orphanet Journal of Rare Diseases|May 13, 2021
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)Paul Gissen, Nicola Specchio, Andrew Olaye, et al.
Orphanet Journal of Rare Diseases|May 13, 2021
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese populationXin Wang, Yanyun Wang, Dingyuan Ma, et al.
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