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  1. 1
    Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

    Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

    Published 2025-01-01
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  2. 2
    Abstracts of the 2023 UDNI Conference

    Abstracts of the 2023 UDNI Conference

    Published 2025-01-01
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  3. 3
    Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

    Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry by Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans

    Published 2025-01-01
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  4. 4
    Highlights of the UDNI’s 12th International Conference (Tbilisi, Georgia, 2023)

    Highlights of the UDNI’s 12th International Conference (Tbilisi, Georgia, 2023) by Oleg Kvlividze, Tinatin (Tika) Tkemaladze

    Published 2025-01-01
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    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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  10. 10
    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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  11. 11
    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
    “…Orphanet Journal of Rare Diseases…”
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  12. 12
    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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  13. 13
    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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  14. 14
    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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  15. 15
    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
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  16. 16
    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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  17. 17
    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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  18. 18
    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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  19. 19
    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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  20. 20
    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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