Intravenous leiomyomatosis presenting as Budd–Chiari syndrome: a case report and literature review by Jingwen Gan, Xiao Ma, Jiang Shao, Jinhui Wang, Dongyan Cao

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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

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Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study by Jana Zang, Deike Weiss, Charlotte Dumitrascu, Julia Glinzer, Marie Wegner, Anna Strube, Jonas Denecke, Almut Niessen, Christina Pflug

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Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption by Zhuoyuan Jiang, Ke Mao, Bingqing Wang, Hao Zhu, Jiqiang Liu, Ruirui Lang, Baichuan Xiao, Hailin Shan, Qi Chen, Ying Li, Shouqin Zhao, Qingguo Zhang, Huisheng Liu, Yong-Biao Zhang

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The distribution and spectrum of thalassemia variants in GUIYANG region, southern China by Xuanyin Zhao, Zhiyu You, Yunyan Deng, Yi Zhou, Dongyang Deng, Jian Quan, Fang Chen, Zhimei Yan, Ya Qi, Leilei Chen, Fang Xiang, Weixian Zheng, Ruyi Zhang

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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

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Generalized pustular psoriasis: a multicentric study on patient characteristics and clinical burden by Cristina Bulai Livideanu, Jérémy Gottlieb, Denis Jullien, Thierry Passeron, Sophie Vildy, Emmanuel Delaporte, Carle Paul, Julien Chollet, Marie Najean, Denis San, Charles Taieb, Bénédicte Charles, Emmanuel Mahe, Pierre-André Becherel, Laurent Misery

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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression by Daphne Wijnbergen, Mridul Johari, Ozan Ozisik, Peter A.C. ‘t Hoen, Friederike Ehrhart, Anaïs Baudot, Chris T. Evelo, Bjarne Udd, Marco Roos, Eleni Mina

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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

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Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis by Robin Lochbaum, Thomas K. Hoffmann, Jens Greve, Janina Hahn

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Correction To: Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

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Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters by Jingyi Li, Yang Lu, Xiqi Xu, Zhuang Tian, Jian Li, Shuyang Zhang

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Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder by Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li, Niu Li

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Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction? by C. Antfang, A. Frommer, G. Gosheger, G. Toporowski, A. Laufer, J. D. Rölfing, R. Roedl, B. Vogt

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Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester by Huanyun Li, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Xinyu Fu, Jingqi Zhu, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Kong

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Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience by Hao-Su Zhan, Lin Wei, Wei Qu, Zhi-Gui Zeng, Ying Liu, Yu-Le Tan, Jun Wang, Liang Zhang, En-Hui He, Guang-Peng Zhou, Hai-Ming Zhang, Zhi-Jun Zhu, Li-Ying Sun

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Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China by Xiaoyan Zhang, Zexiong Su, Jiaxing Wu, Hanshi Zeng, Xun Jiang, Ying Wang, Huiqing Shen, Xiaoli Xie, Yuan Xiao, Qing Tang, Xiaoping Luo, Xuemei Zhong, Huan Chen, Jiaoli Lan, Yongxin Chen, Xiaolu Zeng, Huiqiong Zhang, Zhiling Li, Yuxin Zhang, Min Yang

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Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study by Hiba Abid, Areeba Abid, Sarah Sohail, Sara Jawaid

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Clinical characteristics and prognosis of amyopathic dermatomyositis patients with interstitial lung disease: insights from a retrospective cohort by Yanan Ying, Tingting Wu, Long Wang, Yun Zhang, Yiming Yu, Zaichun Deng, Qunli Ding

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