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Orphanet Journal of Rare Diseases|May 17, 2024
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-upMaría L Couce, María-Dolores Bóveda, Daisy E Castiñeiras, et al.
Orphanet Journal of Rare Diseases|May 17, 2024
A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)Ian Hitchcock, Hanna Skrobanski, Elina Matter, et al.
Orphanet Journal of Rare Diseases|August 29, 2023
Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East ChinaYanyu Duan, Jianxian Xiong, Zhenghong Lai, et al.
Orphanet Journal of Rare Diseases|August 29, 2023
Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvementEnrique Casado, Carlos Gómez-Alonso, Guillem Pintos-Morell, et al.
Orphanet Journal of Rare Diseases|August 29, 2023
Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspectiveKarl Gisslander, Aladdin J Mohammad, Augusto Vaglio, et al.
Orphanet Journal of Rare Diseases|August 29, 2023
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature reviewZhendong Wang, Zhenfu Sun, Yujie Diao, et al.
Orphanet Journal of Rare Diseases|August 29, 2023
Congenital disorders of glycosylation: narration of a story through its patentsMaria Monticelli, Tania D'Onofrio, Jaak Jaeken, et al.
Orphanet Journal of Rare Diseases|October 20, 2023
Does the registry speak your language? A case study of the Global Angelman Syndrome RegistryMegan Tones, Nikolajs Zeps, Yvette Wyborn, et al.
Orphanet Journal of Rare Diseases|October 18, 2023
Patient pathways for rare diseases in Europe: ataxia as an exampleJulie Vallortigara, Julie Greenfield, Barry Hunt, et al.
Orphanet Journal of Rare Diseases|October 4, 2023
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI projectAlessandra Ferlini, Edith Sky Gross, Nicolas Garnier, et al.
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