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Orphanet Journal of Rare Diseases|October 2, 2023
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial diseaseKristina Grigalionienė, Birutė Burnytė, Laima Ambrozaitytė, et al.
Orphanet Journal of Rare Diseases|October 2, 2023
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSFMatheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, et al.
Orphanet Journal of Rare Diseases|September 22, 2023
Guidance to develop a multidisciplinary, international, pediatric registry: a systematic reviewS Ombashi, P A J van der Goes, S L Versnel, et al.
Orphanet Journal of Rare Diseases|July 14, 2023
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutationsHongrui Chen, Bin Sun, Wei Gao, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Ground-glass opacity score predicts the prognosis of anti-MDA5 positive dermatomyositis: a single-centre cohort studyLijun Liu, Yinli Zhang, Cong Wang, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Citrulline in the management of patients with urea cycle disordersApolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, et al.
Orphanet Journal of Rare Diseases|July 20, 2023
Exploring the feasibility of using the ICER Evidence Rating Matrix for Comparative Clinical Effectiveness in assessing treatment benefit and certainty in the clinical evidence on orphan therapies for paediatric indicationsJaro Wex, Monika Szkultecka-Debek, Mariola Drozd, et al.
Orphanet Journal of Rare Diseases|July 10, 2023
Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patientsYan Lok Tiffany Lam, Bun Sheng, Hoi Ming Kwok, et al.
Orphanet Journal of Rare Diseases|July 3, 2023
Single-cell sequencing analysis of peripheral blood in patients with moyamoya diseaseQikai Tang, Wenjun Li, Jie Huang, et al.
Orphanet Journal of Rare Diseases|June 30, 2023
Eculizumab for paroxysmal nocturnal haemoglobinuria: catastrophic health expenditure in Nepalese patientsSugat Adhikari, Surendra Sapkota, Suraj Shrestha, et al.
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