Showing 1 - 20 results of 49 for search '"Journal of Rare Diseases"', query time: 0.06s Refine Results
  1. 1
    Genomic diversity: meeting the challenge of rare diseases

    Genomic diversity: meeting the challenge of rare diseases by Neveen A. Soliman, John A. Sayer

    Published 2025-02-01
    “…Journal of Rare Diseases…”
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  2. 2
    Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

    Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature by Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony

    Published 2025-02-01
    “…Journal of Rare Diseases…”
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  3. 3
    ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38

    ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

    Published 2025-02-01
    “…Journal of Rare Diseases…”
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  4. 4
    Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study

    Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study by Zhi-Xian Ye, Xuan-Yu Chen, Meng-Cheng Li, Xin-Yuan Chen, Yu-Sen Qiu, Ru-Ying Yuan, Zhi-Li Chen, Min-Ting Lin, Jian-Ping Hu, Ying Fu, Wan-Jin Chen, Ning Wang, Shi-Rui Gan, on behalf of the OSCCAR Investigators

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  5. 5
    Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model

    Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  6. 6
    Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

    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

    Published 2024-09-01
    “…Orphanet Journal of Rare Diseases…”
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  7. 7
    Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review

    Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review by Diego Delgado, Firas Dabbous, Nitin Shivappa, Faizan Mazhar, Eric Wittbrodt, Divya Shridharmurthy, Krister Järbrink

    Published 2025-01-01
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  8. 8
    Diagnosis and management of superficial arteriovenous malformations: French healthcare network’s recommendations

    Diagnosis and management of superficial arteriovenous malformations: French healthcare network’s recommendations by Olivia Boccara, Didier Salvan, Claude Laurian, Caroline Degrugillier-Chopinet, Nathalie Degardin, Jean-Guillaume Dillinger, Julie Malloizel-Delaunay, Stéphane Mouton, Stéphane Munck, Annabel Maruani, Annouk Bisdorff-Bresson

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  9. 9
    Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study

    Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study by Lujie Zhang, Yongqiu Yu, Ting Liu, Chongyi Li, Liang Tan, Shuiqian Wen

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  10. 10
    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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  11. 11
    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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  12. 12
    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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  13. 13
    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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  14. 14
    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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  15. 15
    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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  16. 16
    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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  17. 17
    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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  18. 18
    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
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  19. 19
    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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  20. 20
    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
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