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Orphanet Journal of Rare Diseases|June 13, 2022
Lifetime extension and the recent cause of death in Werner syndrome: a retrospective study from 2011 to 2020Hisaya Kato, Masaya Koshizaka, Hiyori Kaneko, et al.
Orphanet Journal of Rare Diseases|June 13, 2022
Analysis of 55 patients with multiple endocrine neoplasia type 1-associated insulinoma from a single center in ChinaYuan Zhao, Jie Yu, Yiwen Liu, et al.
Orphanet Journal of Rare Diseases|June 18, 2022
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance reportMarina Macchiaiolo, Filippo M Panfili, Davide Vecchio, et al.
Orphanet Journal of Rare Diseases|June 20, 2022
Postoperative morbidity and health-related quality of life in children with delayed reconstruction of esophageal atresia: a nationwide Swedish studyMichaela Dellenmark-Blom, Sofie Örnö Ax, Elin Öst, et al.
Orphanet Journal of Rare Diseases|July 8, 2022
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping reviewR Gnasso, B Corrado, I Iommazzo, et al.
Orphanet Journal of Rare Diseases|July 8, 2022
Clinical profile and demographic characteristics of moderate and severe hemophilia patients in a tertiary care hospital of BangladeshMohammed Nadimul Islam, Akhil Ranjon Biswas, Humayra Nazneen, et al.
Orphanet Journal of Rare Diseases|July 8, 2022
Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variantsWenli Wang, Fengying Lu, Bin Zhang, et al.
Orphanet Journal of Rare Diseases|July 8, 2022
Sirolimus reduces the risk of pneumothorax recurrence in patients with lymphangioleiomyomatosis: a historical prospective self-controlled studyChongsheng Cheng, Wenshuai Xu, Yani Wang, et al.
Orphanet Journal of Rare Diseases|June 4, 2021
Treatment adherence in tyrosinemia type 1 patientsDomingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, et al.
Orphanet Journal of Rare Diseases|June 3, 2021
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literatureJohann Philipp Zöllner, Janina Grau, Felix Rosenow, et al.
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