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  1. To investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central...

    Authors: Sung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, Tung-Ming Chang, Sung-Pin Fan, Wan-De Huang, Yea-Huey Lin, Li-Kai Tsai, Yin-Hsiu Chien, Ming-Jen Lee, Wuh-Liang Hwu, Hsueh Wen Hsueh and Chih-Chao Yang
    Citation: Orphanet Journal of Rare Diseases 2024 19:217
  2. Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic appr...

    Authors: Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis and Filippo Pinto e Vairo
    Citation: Orphanet Journal of Rare Diseases 2024 19:216
  3. Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, ...

    Authors: Ella Nysetvold, Lauren N. Lopez, Ashley N. Cogell, Henrik Fryk, Nelson D. Pace, Sara Snell Taylor, Joyce Rhoden, Caitlin A. Nichols, Demetris Pillas, Alexander Klein, Teresa Gasalla and Anna Scowcroft
    Citation: Orphanet Journal of Rare Diseases 2024 19:215
  4. Intraplacental choriocarcinoma (IC) is an extremely rare subtype of gestational choriocarcinoma. The long-term follow-up and reproductive outcomes of IC patients remain unclear. Here, we report a series of 14 ...

    Authors: Yang Liu, Xiaochen Song, Hui Zhang, Fengzhi Feng, Jun Zhao, Junjun Yang, Tong Ren, Xirun Wan, Fang Jiang, Yuan Li and Yang Xiang
    Citation: Orphanet Journal of Rare Diseases 2024 19:214
  5. Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, ...

    Authors: Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels…
    Citation: Orphanet Journal of Rare Diseases 2024 19:213
  6. Brain injury in hereditary hemoglobinopathies is commonly attributed to anemia-related relative hypoperfusion in terms of impaired oxygen blood supply. Supratentorial and infratentorial vascular watershed regi...

    Authors: Renzo Manara, Sara Ponticorvo, Marcella Contieri, Antonietta Canna, Andrea Gerardo Russo, Maria Cristina Fedele, Maria Chiara Rocco, Adriana Borriello, Silvia Valeggia, Maria Pennisi, Marianna De Angelis, Domenico Roberti, Mario Cirillo, Francesco di Salle, Silverio Perrotta, Fabrizio Esposito…
    Citation: Orphanet Journal of Rare Diseases 2024 19:212
  7. With approximately 500 people affected in Austria, epidermolysis bullosa (EB) is a rare genetic skin disease reducing the quality of life of those affected and their relatives. The intensive efforts of the pat...

    Authors: Gudrun Salamon, Ursula Field-Werners, Sophie Strobl, Vinzenz Hübl and Anja Diem
    Citation: Orphanet Journal of Rare Diseases 2024 19:211
  8. Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, transient and unpredictable episodes of cold, non-pruriginous oedema without associated ur...

    Authors: Teresa Caballero, Carmen Alonso, María Luisa Baeza, Krasimira Baynova, José Cabeza, Isabel Cortés, Danilo Escobar Oblitas, Mar Guilarte, Alejandro Joral, Jesús Jurado Palomo, María Ángeles Lara Jiménez, Ana Martínez Virto, Laura Medrano, Emilio Monte Boquet, Montserrat Navarro, Diego Pérez…
    Citation: Orphanet Journal of Rare Diseases 2024 19:210
  9. Marfan syndrome (MFS) is an autosomal dominant connective tissue disease with wide clinical heterogeneity, and mainly caused by pathogenic variants in fibrillin-1 (FBN1).

    Authors: Ying Bai, Yue Sun, Chenguang Yu, Yanjie Xia, Jing Wu, Li Wang, Yong Gao, Xin Tu and Xiangdong Kong
    Citation: Orphanet Journal of Rare Diseases 2024 19:209
  10. When using traditional extensible intramedullary rods to treat congenital pseudarthrosis of the tibia (CPT), there were cases of re-fracture and internal fixation fracture. Therefore, the authors propose a res...

    Authors: Yaoxi Liu, Kun Liu, Qian Tan, Ge Yang, Yiyong Huang, Guanghui Zhu, Jiangyan Wu and Haibo Mei
    Citation: Orphanet Journal of Rare Diseases 2024 19:208
  11. Despite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations facing health disparities remain underrepresented in clinical trials evalua...

    Authors: Norah L. Crossnohere, Nicola B. Campoamor, Eric Camino, Erin Dresnick, Daphne Oluwaseun Martschenko, Viana Rodrigues, Susan Apkon, Alexis Hazlett, Dhruv Mittur, Priscilla E. Rodriguez, John F. P. Bridges and Niki Armstrong
    Citation: Orphanet Journal of Rare Diseases 2024 19:207
  12. Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis. Outcomes of RDEB-cSCC therapies have prim...

    Authors: Austin Hwang, Andie Kwon, Corinne H. Miller, Antonia Reimer-Taschenbrecker and Amy S. Paller
    Citation: Orphanet Journal of Rare Diseases 2024 19:206
  13. Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopme...

    Authors: Ruohao Wu, Xiaojuan Li, Zhe Meng, Pinggan Li, Zhanwen He and Liyang Liang
    Citation: Orphanet Journal of Rare Diseases 2024 19:205
  14. Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional in...

    Authors: Kevin Bloch, Maya Geoffroy, Maxime Taverne, Lara van de Lande, Eimear O’Sullivan, Ce Liang, Giovanna Paternoster, Mehran Moazen, Sébastien Laporte and Roman Hossein Khonsari
    Citation: Orphanet Journal of Rare Diseases 2024 19:204
  15. Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the persp...

    Authors: Ian Hitchcock, Hanna Skrobanski, Elina Matter, Ewen Munro, John Whalen, Joanne Tutein Nolthenius, Alex Crocker-Buque, Amanda Harrington, Delphine Vandenberghe, Sarah Acaster and Kate Williams
    Citation: Orphanet Journal of Rare Diseases 2024 19:203
  16. There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in ...

    Authors: María L. Couce, María-Dolores Bóveda, Daisy E. Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Barbosa-Gouveia, María-José De Castro, Agustin J. Iglesias-Rodríguez, Cristóbal Colón, José A. Cocho and Paula Sánchez
    Citation: Orphanet Journal of Rare Diseases 2024 19:202
  17. Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chine...

    Authors: Qing Shang, Yimin Dai, Jingyi Huang, Wei Liu, Weixun Zhou, Yaping Liu, Hong Yang, Qiang Wang and Yue Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:201
  18. MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the last step of oxidative phosphorylation to...

    Authors: Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Eleonora Lamantea, Daniele Ghezzi, Alessia Catania and Costanza Lamperti
    Citation: Orphanet Journal of Rare Diseases 2024 19:200
  19. Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum of lymphatic malformations (LMs) that share simila...

    Authors: Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula and Laurence M. Boon
    Citation: Orphanet Journal of Rare Diseases 2024 19:199
  20. Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show divers...

    Authors: Ling Su, Huiying Sheng, Xiuzhen Li, Yanna Cai, Huifen Mei, Jing Cheng, Duan Li, Zhikun Lu, Yunting Lin, Xiaodan Chen, Minzhi Peng, Yonglan Huang, Wen Zhang and Li Liu
    Citation: Orphanet Journal of Rare Diseases 2024 19:198
  21. Rare diseases are often complex, chronic and many of them life-shortening. In Germany, healthcare for rare diseases is organized in expert centers for rare diseases. Most patients additionally have regional ge...

    Authors: Laura Inhestern, Ramona Otto, Maja Brandt, David Zybarth, Ralf Oheim, Helke Schüler, Thomas S. Mir, Konstantinos Tsiakas, Payam Dibaj, Jana Zschüntzsch, Pamela M. Okun, Ute Hegenbart, Olaf Sommerburg, Christoph Schramm, Christina Weiler-Normann, Martin Härter…
    Citation: Orphanet Journal of Rare Diseases 2024 19:197
  22. KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impai...

    Authors: Rowena Ng, Allison J Kalinousky and Jacqueline Harris
    Citation: Orphanet Journal of Rare Diseases 2024 19:196
  23. Clinically, arteriovenous malformations in the buttocks (bAVMs) are extremely rare. Our study aimed to evaluate the efficacy and safety of ethanol embolotherapy in managing bAVMs.

    Authors: Yuchen Shen, Deming Wang, Xindong Fan, Lianzhou Zheng, Lixin Su and Xitao Yang
    Citation: Orphanet Journal of Rare Diseases 2024 19:195
  24. The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS...

    Authors: Kexin Xu, Guozhuang Li, Zhihong Wu, Terry Jianguo Zhang and Nan Wu
    Citation: Orphanet Journal of Rare Diseases 2024 19:194
  25. Adeno-associated virus (AAV)-based gene therapy for haemophilia has advanced substantially in the last 13 years; recently, three products have received approvals from regulatory authorities. Although the impac...

    Authors: Wolfgang Miesbach, Greta Mulders, Daan Breederveld, Karen Pinachyan, Sandra Le Quellec and Ingrid Pabinger
    Citation: Orphanet Journal of Rare Diseases 2024 19:193
  26. In patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4–5 years of age. It is important to diagnose DMD during infancy or toddler stage in order to have timel...

    Authors: Paula van Dommelen, Oisín van Dijk, Jeroen A. de Wilde and Paul H. Verkerk
    Citation: Orphanet Journal of Rare Diseases 2024 19:192
  27. There are novel medications approved for the treatment of hereditary transthyretin amyloidosis (ATTRv), classified as transthyretin (TTR) stabilizers or gene silencers. While many patients may be on both class...

    Authors: Taha N. Qarni, Felipe J. S. Jones, Brian Drachman, Sami Khella, Janice Pieretti, Nicolas Sarmiento Bustamante and Chafic Karam
    Citation: Orphanet Journal of Rare Diseases 2024 19:191
  28. Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (rec...

    Authors: Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden and J. Lawrence Merritt II
    Citation: Orphanet Journal of Rare Diseases 2024 19:189
  29. X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazi...

    Authors: Paulo Victor Sgobbi Souza, Tmirah Haselkorn, Jader Baima, Renato Watanabe Oliveira, Fabián Hernández, Marina G. Birck and Marcondes C. França Jr
    Citation: Orphanet Journal of Rare Diseases 2024 19:188
  30. Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their po...

    Authors: JE Tarride, A. Okoh, K. Aryal, C. Prada, Deborah Milinkovic, A. Keepanasseril and A. Iorio
    Citation: Orphanet Journal of Rare Diseases 2024 19:187
  31. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder, leading to various complications and impairments in patients’ health-related quality of life (HRQOL). Limited research has been conducted to ...

    Authors: Huaxin Yu, Shengnan Duan, Pei Wang, Rong Fu, Zixuan Lv, Yuchi Yu, Pu Miao, Junwei Shi, Niekun Zhuang, Huiying Hu, Ni Yuan and Sijia Che
    Citation: Orphanet Journal of Rare Diseases 2024 19:186
  32. Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effe...

    Authors: L. Sangiorgi, M. Boarini, I. Westerheim, R. T. Skarberg, J. Clancy, V. Wang and M. Mordenti
    Citation: Orphanet Journal of Rare Diseases 2024 19:184
  33. With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccu...

    Authors: Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt and Li Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:183
  34. Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. T...

    Authors: Madoka Mori-Yoshimura, Keiko Ishigaki, Yuko Shimizu-Motohashi, Naoko Ishihara, Atushi Unuma, Sumiko Yoshida and Harumasa Nakamura
    Citation: Orphanet Journal of Rare Diseases 2024 19:182
  35. Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the...

    Authors: Ana Jovanovic, Eve Miller-Hodges, Felicia Castriota, Shweta Takyar, Heena Howitt and Olulade Ayodele
    Citation: Orphanet Journal of Rare Diseases 2024 19:181
  36. This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate ...

    Authors: Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac and Pascal Amedro
    Citation: Orphanet Journal of Rare Diseases 2024 19:180
  37. Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to t...

    Authors: Jing-Wen Li, Shao-Jia Mao, Yun-Qi Chao, Chen-Xi Hu, Yan-Jie Qian, Yang-Li Dai, Ke Huang, Zheng Shen and Chao-Chun Zou
    Citation: Orphanet Journal of Rare Diseases 2024 19:179
  38. Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.

    Authors: Bruno Donadille, Sonja Janmaat, Héléna Mosbah, Inès Belalem, Sophie Lamothe, Mariana Nedelcu, Anne-Sophie Jannot, Sophie Christin-Maitre, Bruno Fève, Camille Vatier and Corinne Vigouroux
    Citation: Orphanet Journal of Rare Diseases 2024 19:177
  39. Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals w...

    Authors: Valerio Di Martino, Fabiana Mallone, Alessandro Lambiase, Mauro Celli, Alice Mannocci, Luca Celli, Pietro Mangiantini, Pasquale Fino and Antonietta Moramarco
    Citation: Orphanet Journal of Rare Diseases 2024 19:176
  40. Polycystic liver disease (PLD) is a rare condition observed in three genetic diseases, including autosomal dominant polycystic liver disease (ADPLD), autosomal dominant polycystic kidney disease (ADPKD), and a...

    Authors: Amir Ali Mahboobipour, Moein Ala, Javad Safdari Lord and Arash Yaghoobi
    Citation: Orphanet Journal of Rare Diseases 2024 19:175
  41. Multisystem childhood Langerhans cell histiocytosis (LCH) patients, especially those with risk organ (RO) involved, had not been satisfactorily treated under the international traditional schemes as high incid...

    Authors: Hui-ling Lin, Qing-qing Zheng, Ru-lin Huang, Rong Hu, Xiao-dan Liu and Jia-yi Wang
    Citation: Orphanet Journal of Rare Diseases 2024 19:174
  42. Genetic testing can offer early diagnosis and subsequent treatment of rare neuromuscular diseases. Options for these tests could be improved by understanding the preferences of patients for the features of dif...

    Authors: Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks, Kristina An Haack and Alaa Hamed
    Citation: Orphanet Journal of Rare Diseases 2024 19:173
  43. The ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of ra...

    Authors: Mariam Al-Attar, Sondra Butterworth and Lucy McKay
    Citation: Orphanet Journal of Rare Diseases 2024 19:172
  44. Rapid progressive interstitial lung disease (RP-ILD) is the leading cause of anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis (anti-MDA5+DM) related death. Elevated serum B-cel...

    Authors: Yumeng Shi, Hanxiao You, Chang Liu, Yulu Qiu, Chengyin Lv, Yujing Zhu, Lingxiao Xu, Fang Wang, Miaojia Zhang and Wenfeng Tan
    Citation: Orphanet Journal of Rare Diseases 2024 19:170