Showing 61 - 69 results of 69 for search '"Orphanet Journal of Rare Diseases"', query time: 0.04s Refine Results
  1. 61
    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
    “…Orphanet Journal of Rare Diseases…”
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  2. 62
    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
    “…Orphanet Journal of Rare Diseases…”
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  3. 63
    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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  4. 64
    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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  5. 65
    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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  6. 66
    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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  7. 67
    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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  8. 68
    Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates

    Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates by Zhilei Zhang, Xin Wang, Jingjing Zhang, Xianwei Guan, Yanyun Wang, Dongyang Hong, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  9. 69
    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
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