XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes by Lothar Seefried, Ferdinando Aliberti, Cathrine Alsaker Heier, Pedro Arango-Sancho, Martin Biosse Duplan, Sophia D. Sakka, Francesco Emma, Oliver Gardiner, Muhammad Kassim Javaid, Rui M. Ferreira-Santos, Adalbert Raimann, Kristen Rak, Judith S. Bubbear, Moira S. Cheung, Signe Sparre Beck-Nielsen, Gabriel T. Mindler, Agnès Linglart

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High clinical burden of classical homocystinuria in the United States: a retrospective analysis by Mahim Jain, Mehul Shah, Kamlesh M. Thakker, Andrew Rava, Agnes Pelts Block, Colette Ndiba-Markey, Lionel Pinto

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Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish by Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng, Lingling Xie

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Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota by Xuexin Wang, Zhijun Zheng, Dongliang Yu, Xiaojue Qiu, Ting Yang, Ruoran Li, Jing Liu, Xin Wang, Peng Jin, Jianqiu Sheng, Nan Qin, Na Li, Junfeng Xu

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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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