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  1. 21
    A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

    A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles by Joost Groen, Bas M. de Haan, Ruben J. Overduin, Andrea B. Haijer-Schreuder, Terry GJ Derks, M. Rebecca Heiner-Fokkema

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  2. 22
    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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  3. 23
    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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  4. 24
    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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  5. 25
    Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome

    Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome by Jordan T. Jones, Lora L. Black, William R. Black

    Published 2024-12-01
    “…Orphanet Journal of Rare Diseases…”
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  6. 26
    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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  7. 27
    PHARC syndrome: an overview

    PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

    Published 2024-11-01
    “…Orphanet Journal of Rare Diseases…”
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  8. 28
    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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  9. 29
    Clinical severity grading of NF2-related schwannomatosis

    Clinical severity grading of NF2-related schwannomatosis by Anna C. Lawson McLean, Denise Löschner, Said Farschtschi, Nora F. Dengler, Steffen K. Rosahl

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  10. 30
    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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  11. 31
    VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review

    VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review by Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj

    Published 2024-12-01
    “…Orphanet Journal of Rare Diseases…”
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  12. 32
    Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis

    Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis by Anish Patel, Walter Toro, Min Yang, Wei Song, Raj Desai, Mingchen Ye, Nadia Tabatabaeepour, Omar Dabbous

    Published 2024-12-01
    “…Orphanet Journal of Rare Diseases…”
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  13. 33
    Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach

    Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach by Noushin Rostampour, Setila Dalili, Hossein Moravej, Zhila Afshar, Negar Yazdani, Seyedeh Tahereh Mousavi, Parastoo Rostami, Daniel Zamanfar, Maryam Yahay, Abdolhossein Nikravesh, Zahra Beyzaei, Mohamad Ahangar Davoodi, Atefeh Sedaghat, Tahora Hakemzadeh, Ali Talea

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  14. 34
    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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  15. 35
    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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  16. 36
    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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  17. 37
    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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  18. 38
    Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy

    Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy by Rui Shimazaki, Yoshihiko Saito, Tomonari Awaya, Narihiro Minami, Ryo Kurosawa, Motoyasu Hosokawa, Hiroaki Ohara, Shinichiro Hayashi, Akihide Takeuchi, Masatoshi Hagiwara, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  19. 39
    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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  20. 40
    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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