Showing 61 - 80 results of 82 for search '"Rare"', query time: 0.07s Refine Results
  1. 61
    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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  2. 62
    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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  3. 63
    Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review

    Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review by Ankita Umrao, Monika Pahuja, Nabendu Sekhar Chatterjee

    Published 2024-12-01
    “…Orphanet Journal of Rare Diseases…”
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  4. 64
    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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  5. 65
    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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  6. 66
    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
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  7. 67
    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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  8. 68
    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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  9. 69
    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
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  10. 70
    Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study

    Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study by Gry Velvin, Heidi Johansen, Gunnbjørg Aune, Kerstin Fugl-Meyer, Amy Østertun Geirdal

    Published 2025-01-01
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  11. 71
    Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the “acERca las enfermedades raras” project

    Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive att... by José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña, Assumpta Ricart, Francesc Palau

    Published 2025-01-01
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  12. 72
    Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines

    Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines by Peiyao Wang, Lingwei Hu, Yuhe Chen, Duo Zhou, Shasha Zhu, Ting Zhang, Ziyan Cen, Qimin He, Benqing Wu, Xinwen Huang

    Published 2025-01-01
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  13. 73
    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
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  14. 74
    Clinical management of female patients with Fabry disease based on expert consensus

    Clinical management of female patients with Fabry disease based on expert consensus by Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcut, Antonio Pisani, Roser Torra, Ulla Feldt-Rasmussen

    Published 2025-01-01
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  15. 75
    Alström syndrome: the journey to diagnosis

    Alström syndrome: the journey to diagnosis by Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot

    Published 2025-01-01
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  16. 76
    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
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  17. 77
    A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments

    A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments by Qing Li, Yichi Wu, Fucheng Meng, Zhuxi Li, Di Zhan, Xiaoping Luo

    Published 2024-12-01
    “…Orphanet Journal of Rare Diseases…”
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  18. 78
    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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  19. 79
    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
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  20. 80
    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized,... by Jan H. Driedger, Julian Schröter, PROTECT-Study Group, Steffen Syrbe, Afshin Saffari

    Published 2025-01-01
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