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Orphanet Journal of Rare Diseases|September 2, 2022
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatmentZhehui Chen, Hui Dong, Yupeng Liu, et al.
Orphanet Journal of Rare Diseases|September 2, 2022
Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndromeBrittany Hornby, William Reid Thompson, Mohammed Almuqbil, et al.
Orphanet Journal of Rare Diseases|September 5, 2022
The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infectionCebrail Karaca, Mevlut Tamer Dincer, Seyda Gul Ozcan, et al.
Orphanet Journal of Rare Diseases|September 5, 2022
Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseasesFrida Kaywanga, Mohamed Zahir Alimohamed, Aneth Bella David, et al.
Orphanet Journal of Rare Diseases|September 5, 2022
Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional studyDiogo Lisbôa Basto, Gustavo de Souza Vieira, Raquel M Andrade-Losso, et al.
Orphanet Journal of Rare Diseases|September 5, 2022
Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseasesConor M W Douglas, Fernando Aith, Wouter Boon, et al.
Orphanet Journal of Rare Diseases|September 14, 2022
Identifying project topics and requirements in a citizen science project in rare diseases: a participative studyMichaela Neff, Holger Storf, Jessica Vasseur, et al.
Orphanet Journal of Rare Diseases|September 14, 2022
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhoodA Muravyev, T Vershinina, P Tesner, et al.
Orphanet Journal of Rare Diseases|September 15, 2022
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinicAnastasia Ambrose, Melissa Sheehan, Shalini Bahl, et al.
Orphanet Journal of Rare Diseases|September 11, 2022
Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formatsAndrew A Dwyer, Melissa Uveges, Samantha Dockray, et al.
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