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  1. Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic ...

    Authors: Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren and Xiangdong Kong
    Citation: Orphanet Journal of Rare Diseases 2024 19:160
  2. Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clini...

    Authors: Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin…
    Citation: Orphanet Journal of Rare Diseases 2024 19:159
  3. Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. Two-thirds of patients present wit...

    Authors: Karen S. Yee, David Alexanderian, Susan Martin, Bimpe Olayinka-Amao and David A. H. Whiteman
    Citation: Orphanet Journal of Rare Diseases 2024 19:158
  4. ABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. The correlation between genotype and clinical phenotype still unclear. This study retrospectively analyzed t...

    Authors: Lili Cao, Xiuxin Ling, Jianguo Yan, Danni Feng, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Shishu Zhu, Yinjie Gao, Zhenhua Cao and Min Zhang
    Citation: Orphanet Journal of Rare Diseases 2024 19:157
  5. Sarcoidosis is a chronic inflammatory granulomatous disease of unknown cause. Delays in diagnosis can result in disease progression and poorer outcomes for patients. Our aim was to review the current literatur...

    Authors: Tergel Namsrai, Christine Phillips, Anne Parkinson, Dianne Gregory, Elaine Kelly, Matthew Cook and Jane Desborough
    Citation: Orphanet Journal of Rare Diseases 2024 19:156
  6. Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypog...

    Authors: Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang and Li Liu
    Citation: Orphanet Journal of Rare Diseases 2024 19:155
  7. The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of...

    Authors: Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox and Benedikt Schoser
    Citation: Orphanet Journal of Rare Diseases 2024 19:154
  8. Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal compl...

    Authors: Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee and Dawn Laney
    Citation: Orphanet Journal of Rare Diseases 2024 19:153
  9. Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role i...

    Authors: Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri and Gunadi
    Citation: Orphanet Journal of Rare Diseases 2024 19:152
  10. Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential...

    Authors: Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres…
    Citation: Orphanet Journal of Rare Diseases 2024 19:151
  11. We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phe...

    Authors: Liesbet D. F. M. Van Hirtum, Tine Van Damme, Johan L. K. Van Hove and Jean G. Steyaert
    Citation: Orphanet Journal of Rare Diseases 2024 19:150
  12. Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with...

    Authors: Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang and Xiumin Wang
    Citation: Orphanet Journal of Rare Diseases 2024 19:149
  13. Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are differe...

    Authors: Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch…
    Citation: Orphanet Journal of Rare Diseases 2024 19:148
  14. Patient registries and databases are essential tools for advancing clinical research in the area of rare diseases, as well as for enhancing patient care and healthcare planning. The primary aim of this study i...

    Authors: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Georgi Iskrov, Georgi Stefanov, Merja Vakevainen, Kaisa Elomaa, Yuen-Sum Man, Edith Gross, Jana Zschüntzsch, Richard Röttger and Rumen Stefanov
    Citation: Orphanet Journal of Rare Diseases 2024 19:147
  15. Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of ne...

    Authors: Song Qu, Junyi Wang, Xingying Guan, Cui Song and Yanyan Wang
    Citation: Orphanet Journal of Rare Diseases 2024 19:146
  16. Traditional biochemical screening for neonatal inherited metabolic diseases has high false-positive rates and low positive predictive values, which are not conducive to early diagnosis and increase parents’ an...

    Authors: Fang Guo, Lingna Zhou, Feng Zhang, Bin Yu, Yuqi Yang and Zhiwei Liu
    Citation: Orphanet Journal of Rare Diseases 2024 19:145
  17. Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skel...

    Authors: Chung-Hsing Wang, Yu‐Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh‐Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su and Fuu-Jen Tsai
    Citation: Orphanet Journal of Rare Diseases 2024 19:144
  18. Myasthenia gravis (MG), a rare chronic neuromuscular disorder, is characterized by progressive physical decline and requires long-term pharmacological treatment. Due to the decline of physical and social abili...

    Authors: Jiazhou Yu, Luyao Xie, Shanquan Chen, Zhilan Fang, Liling Zhu, Huanyu Zhang, Richard H. Xu, Huan Yang and Dong Dong
    Citation: Orphanet Journal of Rare Diseases 2024 19:143
  19. Authors: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato…
    Citation: Orphanet Journal of Rare Diseases 2024 19:142

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:433

  20. Klippel–Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of two or more cervical vertebrae during early prenatal development. This fusion results from a failure of segmentation dur...

    Authors: Nanfang Xu, Kan-Lin Hung, Xiaoli Gong, Dongwei Fan, Yinglun Tian, Ming Yan, Yuan Wei and Shenglin Wang
    Citation: Orphanet Journal of Rare Diseases 2024 19:141
  21. Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene. As clinical and pathological features may overlap with other types of ...

    Authors: Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma and Manoj K Goyal
    Citation: Orphanet Journal of Rare Diseases 2024 19:140
  22. Authors: Michał Nowicki, Stanisława Bazan‑Socha, Beata Błażejewska‑Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia‑Stec, Zofia Oko‑Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec and Jarosław Sławek
    Citation: Orphanet Journal of Rare Diseases 2024 19:139

    The original article was published in Orphanet Journal of Rare Diseases 2024 19:16

  23. Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role...

    Authors: Hemmo A.F. Yska, Marc Engelen and Marianna Bugiani
    Citation: Orphanet Journal of Rare Diseases 2024 19:138
  24. Diffuse sclerosing variant of papillary thyroid carcinoma (DSVPTC) is a rare but high invasive subtype of papillary thyroid carcinoma, which mandates an aggressive clinical strategy. Few studies have focused o...

    Authors: Wanying Li, Ying Wang, Luying Gao, Ruie Feng, Ke Lv, Xining Wu, Xiao Yang, Sheng Cai, Hongyan Wang and Jianchu Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:136
  25. Low-dose pharmacokinetic (PK)-guided extended half-life (EHL) factor VIII (FVIII) prophylaxis can reduce the bleeding risk in hemophilia A (HA) patients. An increase in physical activities for promoting muscul...

    Authors: Chonlatis Srichumpuang, Arunothai Rakmanotham, Chatphatai Moonla and Darintr Sosothikul
    Citation: Orphanet Journal of Rare Diseases 2024 19:135
  26. Patients with lymphangioleiomyomatosis (LAM) are considered high risk for most surgeries and require specific anesthetic considerations mainly because of the common spontaneous pneumothorax (PTX). To explore w...

    Authors: Chen Sun, Lijian Pei, Chongsheng Cheng, Bing Bai, Kai-Feng Xu and Yuguang Huang
    Citation: Orphanet Journal of Rare Diseases 2024 19:133
  27. This study investigated the clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients. Our objective was to better define the clinical pres...

    Authors: Qian Liu, Zhiqiang Li, Huimei Zhou, Dongyan Cao, Jiaxin Yang, Keng Shen and Jinghe Lang
    Citation: Orphanet Journal of Rare Diseases 2024 19:132
  28. Alpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease (COPD) but has a greater burden of proteinase related tissue damage. The...

    Authors: E. Sapey, L. E. Crowley, R. G. Edgar, D. Griffiths, S. Samanta, H. Crisford, C. E. Bolton, J. R. Hurst and R. A. Stockley
    Citation: Orphanet Journal of Rare Diseases 2024 19:130
  29. Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite...

    Authors: L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelenstov, L. S. Kearns and K. L. Galvin
    Citation: Orphanet Journal of Rare Diseases 2024 19:129
  30. Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcar...

    Authors: Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince and Frank Rauch
    Citation: Orphanet Journal of Rare Diseases 2024 19:128
  31. Adrenoleukodystrophy (ALD) is a multifaceted, X-linked, neurodegenerative disorder that comprises several clinical phenotypes. ALD affects patients through a variety of physical, emotional, social, and other d...

    Authors: Anika Varma, Jennifer Weinstein, Jamison Seabury, Spencer Rosero, Nuran Dilek, John Heatwole, Charlotte Engebrecht, Shaweta Khosa, Kaitlin Chung, Asif Paker, Amy Woo, Gregory Brooks, Chan Beals, Rohan Gandhi and Chad Heatwole
    Citation: Orphanet Journal of Rare Diseases 2024 19:127
  32. Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH. In this study, the clinical manifestations and m...

    Authors: Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su and Chun-xiu Gong
    Citation: Orphanet Journal of Rare Diseases 2024 19:126
  33. CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been ...

    Authors: Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer and Erika F. Augustine
    Citation: Orphanet Journal of Rare Diseases 2024 19:125
  34. In many countries, nitrous oxide is used in a gas mixture (EMONO) for short-term analgesia. Cases of addiction, with significant misuse, have been reported in hospitalized patients. Patients suffering from sic...

    Authors: Marie Gérardin, Morgane Rousselet, Marie-Laure Couec, Agathe Masseau, Aurélie Aquizerate, Nicolas Authier, Sylvie Deheul, Anne Roussin, Joelle Micallef, Samira Djezzar, Fanny Feuillet, Pascale Jolliet, Marie Grall-Bronnec and Caroline Victorri-Vigneau
    Citation: Orphanet Journal of Rare Diseases 2024 19:124
  35. Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complic...

    Authors: Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng…
    Citation: Orphanet Journal of Rare Diseases 2024 19:123
  36. The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patie...

    Authors: Wendy Wagner, Tom A. Doyle, Clair A. Francomano, Dacre R. T. Knight and Colin M. E. Halverson
    Citation: Orphanet Journal of Rare Diseases 2024 19:122
  37. Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited.

    Authors: Yong Wang, Zhongling Ke, Yufen Li, Mingqi Qiu, Jing Liu, Zuozhen Yang, Shu Wen, Mengmeng Liang and Shan Chen
    Citation: Orphanet Journal of Rare Diseases 2024 19:121
  38. Locoregional recurrence is a critical factor in the prognosis of sinonasal malignancies. Due to the rarity of these tumours, as well as the heterogeneity of histologies and anatomical subsites, there is little...

    Authors: Fatemeh Kashani, BG Weiss, P Bartenstein, M Canis and F Haubner
    Citation: Orphanet Journal of Rare Diseases 2024 19:120
  39. Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complicatio...

    Authors: Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat…
    Citation: Orphanet Journal of Rare Diseases 2024 19:118
  40. Real-world evidence (RWE) generated using real-world data (RWD) presents the potential to contextualize and/or supplement traditional clinical trials for regulatory approval of rare diseases (RDs). This system...

    Authors: Shailja Vaghela, Kaniz Afroz Tanni, Geetanjoli Banerjee and Vanja Sikirica
    Citation: Orphanet Journal of Rare Diseases 2024 19:117
  41. Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the char...

    Authors: Yazhao Mei, Yunyi Jiang, Li Shen, Zheying Meng, Zhenlin Zhang and Hao Zhang
    Citation: Orphanet Journal of Rare Diseases 2024 19:116
  42. Interventions for social difficulties have not been investigated in the neurofibromatosis type 1 (NF1) population despite observations of elevated rates of social difficulties. In this pilot study, the effecti...

    Authors: Danielle M. Glad, Sara K. Pardej, Ellen Olszewski and Bonita P. Klein-Tasman
    Citation: Orphanet Journal of Rare Diseases 2024 19:115
  43. In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to c...

    Authors: Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone and Katharina Schoner
    Citation: Orphanet Journal of Rare Diseases 2024 19:114
  44. Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholineste...

    Authors: Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad and Shahriar Nafissi
    Citation: Orphanet Journal of Rare Diseases 2024 19:113
  45. Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive app...

    Authors: Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry and Siddharth K Prakash
    Citation: Orphanet Journal of Rare Diseases 2024 19:112
  46. Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype–phenotype associat...

    Authors: Rowena Ng, Julia O’Connor, Deirdre Summa and Antonie D. Kline
    Citation: Orphanet Journal of Rare Diseases 2024 19:111