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  1. 81
    Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  2. 82
    Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  3. 83
    Correction To: Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  4. 84
    Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  5. 85
    Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  6. 86
    Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction?

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  7. 87
    Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  8. 88
    Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  9. 89
    Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China

    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

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  10. 90
    Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

    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

    Published 2025-02-01
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  11. 91
    Clinical characteristics and prognosis of amyopathic dermatomyositis patients with interstitial lung disease: insights from a retrospective cohort

    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

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  12. 92
    Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

    Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  13. 93
    Caregiver’s experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey

    Caregiver’s experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey by Qing Luo, Chunqin Liu, Lizhou Lin, Xuehua Liu, Huifang Chen

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  14. 94
    Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life

    Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life by Thijs Kuipers, Carlijn Mussies, Aaltje Lei, Gwen M.C. Masclee, Marc A. Benninga, Paul Fockens, Barbara A.J. Bastiaansen, Albert J. Bredenoord, Michiel P. van Wijk

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  15. 95
    KaRhab: an international online registry for cardiac rhabdomyomas

    KaRhab: an international online registry for cardiac rhabdomyomas by Vera-Maria Herrmann, Maria Arelin, Caroline G. Bergner, Julia Herrmann, Paula Janz, Henriette Kiep, Annika Mueller, Steffen Syrbe, Robert Wagner, Bardo Wannenmacher, Nadine Wolf, Michael Weidenbach, Vincent Strehlow

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  16. 96
    An assessment of burden associated with problem joints in children and adults with moderate or severe haemophilia A: analysis of the CHESS-Paediatrics and CHESS II cross-sectional studies

    An assessment of burden associated with problem joints in children and adults with moderate or severe haemophilia A: analysis of the CHESS-Paediatrics and CHESS II cross-sectional... by Paul McLaughlin, Hortensia De la Corte-Rodriguez, Tom Burke, Francis Nissen, Martynas Aizenas, Katya Moreno, Jamie O’Hara

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  17. 97
    A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability

    A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  18. 98
    Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones

    Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a... by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  19. 99
    Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

    Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome by May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  20. 100
    Mechanism of podophyllotoxin-induced ovarian toxicity via the AMPK/TSC1/mTOR/ULK1 axis in rats on the basis of toxicological evidence chain (TEC) concept

    Mechanism of podophyllotoxin-induced ovarian toxicity via the AMPK/TSC1/mTOR/ULK1 axis in rats on the basis of toxicological evidence chain (TEC) concept by Jingjing Li, Yanzhao Zhang, Mingyue Wei, Junjie He, Huifeng Ma, Zilong Chen, Jiajia Duan, Chuanxin Liu

    Published 2025-01-01
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