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Orphanet Journal of Rare Diseases|February 24, 2026
Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorderNasrin Motazedian, Mohsen Mohammadi, Negar Azarpira, et al.
Orphanet Journal of Rare Diseases|February 20, 2026
Burden of disease in adult patients with hereditary angioedema: results from a multinational surveyMaureen Watt, Inmaculada Martinez-Saguer, Angela Simon, et al.
Orphanet Journal of Rare Diseases|February 20, 2026
Narratives unveil knowledge and awareness-related issue, reinforcing patients' self-identity in sickle cell diseaseLucia De Franceschi, Carla Galvani, Giovan Battista Ruffo, et al.
Orphanet Journal of Rare Diseases|July 3, 2023
Overview of patients' cohorts in the French National rare disease registryThibaut Pichon, Claude Messiaen, Louis Soussand, et al.
Orphanet Journal of Rare Diseases|June 2, 2023
The challenges of classical galactosemia: HRQoL in pediatric and adult patientsMerel E Hermans, Hedy A van Oers, Gert J Geurtsen, et al.
Orphanet Journal of Rare Diseases|February 6, 2024
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disordersMarketa Wayhelova, Vladimira Vallova, Petr Broz, et al.
Orphanet Journal of Rare Diseases|February 9, 2024
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 geneMuhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, et al.
Orphanet Journal of Rare Diseases|February 7, 2024
The effects of etidronate on brain calcifications in Fahr's disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trialBirgitta Mg Snijders, Gini Mathijssen, Mike Jl Peters, et al.
Orphanet Journal of Rare Diseases|February 23, 2024
Hyperphagia and impulsivity: use of self-administered Dykens' and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesityLara Arnouk, Hélène Chantereau, Sophie Courbage, et al.
Orphanet Journal of Rare Diseases|February 10, 2024
Needs of amyloidosis patients and their care providers: design & first results of the AMY-NEEDS research and care programSandra Michaela Ihne-Schubert, Teresa Radovic, Saskia Fries, et al.
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