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  1. 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

  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues. Current standard of care for the ...

    Authors: Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano and David Alexanderian
    Citation: Orphanet Journal of Rare Diseases 2024 19:110
  27. Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigu...

    Authors: Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried and Kathryn M. Dahir
    Citation: Orphanet Journal of Rare Diseases 2024 19:109
  28. Osteogenesis imperfecta (OI) affects dental and craniofacial development; therefore, it can influence oral health-related quality of life (OHRQoL). The objective of this study was to explore the influence of t...

    Authors: Amira Ahmed Elfituri, Manuel Joaquín De Nova and Mohammadamin Najirad
    Citation: Orphanet Journal of Rare Diseases 2024 19:108
  29. Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sl...

    Authors: Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini…
    Citation: Orphanet Journal of Rare Diseases 2024 19:107
  30. Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to...

    Authors: Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder and Hagen Sjard Bachmann
    Citation: Orphanet Journal of Rare Diseases 2024 19:106
  31. This study aimed to assess medication adherence and demographic, clinical, and psychopathological parameters such as quality of life, depression, and anxiety levels that can affect pediatrics with Wilson’s Dis...

    Authors: Mehmet Akif Göktaş and Nadir Yalcin
    Citation: Orphanet Journal of Rare Diseases 2024 19:105
  32. Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-bra...

    Authors: Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt and Yuji Sato
    Citation: Orphanet Journal of Rare Diseases 2024 19:104
  33. As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are still lacking. This study aims to analyze the genetic and clinical charact...

    Authors: Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi…
    Citation: Orphanet Journal of Rare Diseases 2024 19:103
  34. Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-ter...

    Authors: Fabiola Di Dato, Giuseppe D’Uonno and Raffaele Iorio
    Citation: Orphanet Journal of Rare Diseases 2024 19:102
  35. Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSN...

    Authors: Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu and Ningdong Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:101
  36. Poor fetal and perinatal outcomes in fetuses associated with umbilical artery thrombosis (UAT), such as severe intrauterine growth restriction (IUGR) and intrauterine asphyxia have been reported by some case s...

    Authors: Peng Tu, Xiaohang Zhang, Chunyan Zhong, Qian Ran and Suzhen Ran
    Citation: Orphanet Journal of Rare Diseases 2024 19:100
  37. Most genetic skeletal disorders (GSD) were complex, disabling and life-threatening without effective diagnostic and treatment methods. However, its impacts on health system have not been well studied. The stud...

    Authors: Luna Liu, Yingzhou Shi, Xiude Fan, Yangyang Yao, Wanhong Wu, Yang Tian, Huixiao Wu, Zongyue Li, Yanzhou Wang and Chao Xu
    Citation: Orphanet Journal of Rare Diseases 2024 19:99
  38. Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study’s purpose was to measure the r...

    Authors: Joana Poejo, Ana Isabel Gomes, Pedro Granjo and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2024 19:98
  39. Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series. To date, no studies have examined the relative risk of ...

    Authors: Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen and Herng-Ching Lin
    Citation: Orphanet Journal of Rare Diseases 2024 19:97
  40. The conduct of rare disease clinical trials is still hampered by methodological problems. The number of patients suffering from a rare condition is variable, but may be very small and unfortunately statistical...

    Authors: Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs and Rima Nabbout
    Citation: Orphanet Journal of Rare Diseases 2024 19:96
  41. Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, card...

    Authors: Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone and Antonella Lo Mauro
    Citation: Orphanet Journal of Rare Diseases 2024 19:94
  42. While health care and societal costs are routinely modelled for most diseases, there is a paucity of comprehensive data and cost-of-illness (COI) studies for inherited retinal diseases (IRDs). This lack of dat...

    Authors: Qin Xiang Ng, Clarence Ong, Clyve Yu Leon Yaow, Hwei Wuen Chan, Julian Thumboo, Yi Wang and Gerald Choon Huat Koh
    Citation: Orphanet Journal of Rare Diseases 2024 19:93
  43. Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. B...

    Authors: Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg and Ronen Spiegel
    Citation: Orphanet Journal of Rare Diseases 2024 19:92
  44. Over the last twenty years of orphan drug regulation in Europe, the regulatory framework has increased its complexity, with different regulatory paths and tools engineered to facilitate the innovation and acce...

    Authors: Luísa Bouwman, Bruno Sepodes, Hubert Leufkens and Carla Torre
    Citation: Orphanet Journal of Rare Diseases 2024 19:91
  45. Rare diseases present immense challenges to physicians, patients, and the healthcare system at large due to a scarcity of research and knowledge in the field. This contributes to uncertainty surrounding rare d...

    Authors: Leisha Devisetti
    Citation: Orphanet Journal of Rare Diseases 2024 19:37