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Orphanet Journal of Rare Diseases|July 4, 2024
Quality of life in patients with acromegaly: a scoping reviewWei Wang, Ting Yang, Qinghua Huang
Orphanet Journal of Rare Diseases|July 3, 2024
Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysisJinfu Zhou, Guilin Li, Yinglin Zeng, et al.
Orphanet Journal of Rare Diseases|September 6, 2024
Social cognition, psychosocial development and well-being in galactosemiaClémentine Bry, Klervi Propice, Jessica Bourgin, et al.
Orphanet Journal of Rare Diseases|September 6, 2024
A scoping review of health literacy in rare disorders: key issues and research directionsUna Stenberg, Lydia Westfal, Andreas Dybesland Rosenberger, et al.
Orphanet Journal of Rare Diseases|August 24, 2024
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021Lei Zhao, Yiyun Shi, Chaoping Hu, et al.
Orphanet Journal of Rare Diseases|May 27, 2024
Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiologyWenbo Liu, Yi Wu, Rulan Ma, et al.
Orphanet Journal of Rare Diseases|June 11, 2024
Swallowing characterization of adult-onset Niemann-Pick, type C1 patientsBeth I Solomon, Andrea M Muñoz, Ninet Sinaii, et al.
Orphanet Journal of Rare Diseases|June 11, 2024
A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathyYimin Dai, Miao He, Hui Xu, et al.
Orphanet Journal of Rare Diseases|May 28, 2024
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagyMasanori Inoue, Wulan Apridita Sebastian, Shota Sonoda, et al.
Orphanet Journal of Rare Diseases|May 22, 2024
Long-term outcome and fertility results of intraplacental choriocarcinoma: a retrospective study of 14 patients and literature reviewYang Liu, Xiaochen Song, Hui Zhang, et al.
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