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Attenuated dietary motivation in Wilson's disease correlates with clinical severit
Author: Wang, Xue-Qiao; Wang, Yan-Xin; Ye, Zhao-Hao; Zhang, Zhi-Lin; Pan, Xun; Wang, Xi-Chen; Cen, Si-Fan
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04263-z
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SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East Chin
Author: Xu, Fei; Chen, Xiaoli; Xu, Qiyu; Zou, Anqing; Li, Xiaolong; Wang, Mingshan; Yang, Lihong; Xie, Haixiao
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04200-0
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Targeted therapy for Langerhans cell histiocytosis with maxillofacial involvement in 20 childre
Author: Jiang, Yang; Li, Zhigang; Yang, Ying; Zhang, Rui; Wang, Tianyou; Yu, Guoxia
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04301-w
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Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese cente
Author: Li, Yifan; Lv, Qianying; Lu, Wei; Liu, Haimei; Feng, Jiayan; Guan, Wanzhen; Gong, Yinv; Zeng, Qiaoqian; Zhang, Xiaomei; Xu, Hong; Sun, Li
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04258-w
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Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertensio
Author: Jin, Junhao; Su, Hongling; Wan, Zunmin; Zhao, Yating; Zhao, Hongfan; Tang, Aiping; Ma, Ya; Liu, Huan; Gao, Tongtong; Ma, Like; Wang, Aqian; Li, Bo; Jiang, Kaiyu; Zhang, Fu; Zhang, Yunhe; Jiang, Mei; Zhang, Chenxi; Zhang, Min; Cao, Yunshan
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04307-4
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Genetic and clinical characteristics of pediatric patients with cystic fibrosis: a single-center retrospective study in Chin
Author: Liu, Jinrong; Ma, Lanhong; Yu, Weijian; Zhou, Jin; Zhou, Guanghua; Tuhongjiang, Yilijang; Maitusong, Gulimire; Wang, Ziwei; Aizeze, Shapaguli; Tian, Dianhui; Zhang, Xiaoyan; Yang, Haiming
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04290-w
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Relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type
Author: Lv, Xiao-Ting; Lin, Wei; Ye, Bei-Ning; Zhang, Ze-Wei; Lin, Han; Zhang, Jia-Yi; Zhou, Zi-Ying; Cui, Mao-Lin; Huang, Zhuo-Ying; Wang, Ning; Gan, Shi-Rui
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04306-5
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Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, Chin
Author: Wang, Yan; Ma, Qingqing; Li, WeiDong; Huang, Yong; Song, Wangsheng; Xu, Hongyu; Zhu, Peng; Hu, Haili
Journal: ORPHANET JOURNAL OF RARE DISEASES. 2026; Vol. 21, Issue 1, pp. -. DOI: 10.1186/s13023-026-04225-5
