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  1. 61
    A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?

    A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment? by Isabelle Mohr, Patrick Lamade, Christophe Weber, Viola Leidner, Sebastian Köhrer, Alexander Olkus, Matthias Lang, Andrea Langel, Patrischia Dankert, Melanie Greibich, Silke Wolf, Holger Zimmer, Patrick Michl, Aurélia Poujois, Karl Heinz Weiss, Uta Merle

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  2. 62
    Specific plasma metabolite profile in intestinal Behçet’s syndrome

    Specific plasma metabolite profile in intestinal Behçet’s syndrome by Cheng-cheng Hou, Hua-fang Bao, Chun-hui She, Hua-yu Chen, Guan-xing Pan, Hua-ning Chen, Hong-bing Rui

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  3. 63
    Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey

    Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey by Ari Zimran, Shoshana Revel-Vilk, Tama Dinur, Majdolen Istaiti, Jaco Botha, Elena Lukina, Pilar Giraldo, Patrick Deegan, Stephan vom Dahl

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  4. 64
    Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinical implications of genetic discoveries in congenital scoliosis

    Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinic... by Guanfeng Lin, Yang Yang, Zefu Chen, Sen Zhao, Yuchen Niu, You Du, Yiwei Zhao, Shengru Wang, Nan Wu, Jianguo Zhang

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  5. 65
    The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

    The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update by Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke, Maria C. Fragoso, Constantine A. Stratakis, Albain Chansavang, Eric Pasmant, Bruno Ragazzon, Jérôme Bertherat, for the COMETE and ENSAT Networks

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  6. 66
    Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine

    Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine by Anna-Maria Wiesinger, Florian B. Lagler

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  7. 67
    Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis

    Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis by YuZhi Shi, Bin Chen, SongTao Niu, XinGao Wang, ZaiQiang Zhang

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  8. 68
    XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  9. 69
    High clinical burden of classical homocystinuria in the United States: a retrospective analysis

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  10. 70
    Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  11. 71
    Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  12. 72
    Intravenous leiomyomatosis presenting as Budd–Chiari syndrome: a case report and literature review

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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  13. 73
    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 (Pompe PURSUE)

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  14. 74
    Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  15. 75
    Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  16. 76
    The distribution and spectrum of thalassemia variants in GUIYANG region, southern China

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  17. 77
    Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  18. 78
    Generalized pustular psoriasis: a multicentric study on patient characteristics and clinical burden

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  19. 79
    Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  20. 80
    Unraveling the genetic spectrum of inherited deaf-blindness in Portugal

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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