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  1. Autophagy plays an important role in the progression of carotid atherosclerosis (CAS). This study aimed to identify hub autophagy-related genes (ATGs) associated with CAS.

    Authors: Chi Ma, Taoyuan Lu, Yanyan He, Dehua Guo, Lin Duan, Rufeng Jia, Dongyang Cai, Tao Gao, Zhongcan Chen, Binghua Xue, Tianxiao Li and Yingkun He
    Citation: Orphanet Journal of Rare Diseases 2023 18:66
  2. Direct estimates of rare disease prevalence from public health surveillance may only be available in a few catchment areas. Understanding variation among observed prevalence can inform estimates of prevalence ...

    Authors: Nedra Whitehead, Stephen W. Erickson, Bo Cai, Suzanne McDermott, Holly Peay, James F. Howard and Lijing Ouyang
    Citation: Orphanet Journal of Rare Diseases 2023 18:65
  3. To investigate the role of Sirtuin 1 (SIRT1) level and SIRT1 (rs3818292, rs3758391, rs7895833) gene polymorphisms in patients with optic neuritis (ON) and multiple sclerosis (MS).

    Authors: Aleksandra Kubiliute, Greta Gedvilaite, Alvita Vilkeviciute, Loresa Kriauciuniene, Akvile Bruzaite, Dalia Zaliuniene and Rasa Liutkeviciene
    Citation: Orphanet Journal of Rare Diseases 2023 18:64
  4. GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tool...

    Authors: Costanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, Nardo Nardocci, Tiziana Granata, Francesca Ragona, Ludovica Pasca, Martina Maria Mensi, Renato Borgatti, Sara Olivotto, Roberto Previtali, Antonella Riva, Maria Margherita Mancardi, Pasquale Striano, Mara Cavallin, Renzo Guerrini…
    Citation: Orphanet Journal of Rare Diseases 2023 18:63
  5. Cystic fibrosis (CF) is the most common genetic disease in the Caucasion population. Thanks to the CFTR modulators therapy, life expectancy will significantly improve. New therapeutic challenges can be expecte...

    Authors: Nela Stastna, Kristian Brat, Lukas Homola, Audun Os and Dagmar Brancikova
    Citation: Orphanet Journal of Rare Diseases 2023 18:62
  6. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder associated with increased immune activity and severe, progressive heterotopic ossification. We previously described a cohort of 32 patient...

    Authors: Hayley Wallace, Rhonda H. Lee and Edward C. Hsiao
    Citation: Orphanet Journal of Rare Diseases 2023 18:61
  7. Even with the introduction of new genetic techniques that enable accurate genomic characterization, knowledge about the phenotypic spectrum of rare chromosomal disorders is still limited, both in literature an...

    Authors: Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor and Conny M. A. van Ravenswaaij-Arts
    Citation: Orphanet Journal of Rare Diseases 2023 18:60
  8. Terminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media pl...

    Authors: Aafke Engwerda, Wilhelmina S. Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen and Conny M. A. van Ravenswaaij-Arts
    Citation: Orphanet Journal of Rare Diseases 2023 18:59
  9. Behçet Syndrome (BS) has a significant psychological and social impact on patients, caregivers and families. The present study aims at exploring disease perception in BS patients, using both a co-designed surv...

    Authors: D. Marinello, I. Palla, V. Lorenzoni, G. Andreozzi, S. Pirri, S. Ticciati, S. Cannizzo, A. Del Bianco, E. Ferretti, S. Santoni, G. Turchetti, M. Mosca and R. Talarico
    Citation: Orphanet Journal of Rare Diseases 2023 18:58
  10. Diprosopus is a rare malformation of still unclear aetiology. It describes a laterally double faced monocephalic and single-trunk individual and has to be distinguished from the variant Janus type diprosopus.

    Authors: Helga Rehder, Susanne G. Kircher, Katharina Schoner, Mateja Smogavec, Jana Behunova, Ulrike Ihm, Margit Plassmann, Manuel Hofer, Helmut Ringl and Franco Laccone
    Citation: Orphanet Journal of Rare Diseases 2023 18:57
  11. Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368...

    Authors: Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo…
    Citation: Orphanet Journal of Rare Diseases 2023 18:56
  12. Authors: George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon and Monica Kumar
    Citation: Orphanet Journal of Rare Diseases 2023 18:55

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:437

  13. Authors: Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl and Johan L. K. Van Hove
    Citation: Orphanet Journal of Rare Diseases 2023 18:54

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:423

  14. Anaplastic lymphoma kinase (ALK)-positive histiocytosis, a novel rare histiocytic proliferation, was first described in 2008; it occurs in early infancy with liver and hematopoietic involvement. The spectrum w...

    Authors: Wei Liu, Hong-jie Liu, Wei-ya Wang, Yuan Tang, Sha Zhao, Wen-yan Zhang, Jia-qi Yan and Wei-ping Liu
    Citation: Orphanet Journal of Rare Diseases 2023 18:53
  15. Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population of Eastern European and Ashkenazi Jewish desce...

    Authors: Doaa M. A. Ibrahim, Ola S. M. Ali, Hala Nasr, Ekram Fateen and Alice AbdelAleem
    Citation: Orphanet Journal of Rare Diseases 2023 18:52
  16. Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious and rare diseases, most often drug-induced, and their incidence has been estimated at 6 cases/million/year in France. SJS and TEN...

    Authors: Dhyna Thorel, Saskia Ingen-Housz-Oro, Daniel Benaïm, Vincent Daien, Eric Gabison, Valentine Saunier, Laurence Béral, David Touboul, Dominique Brémond-Gignac, Matthieu Robert, Robin Vasseur, Gérard Royer, Olivier Dereure, Brigitte Milpied, Claire Bernier, Anne Welfringer-Morin…
    Citation: Orphanet Journal of Rare Diseases 2023 18:51
  17. Adult-onset Still’s disease (AOSD) is a multi-system, auto-inflammatory disease characterized by fever, arthralgia, typical rash, leukocytosis, sore throat, and liver dysfunction, among other symptoms. Retrosp...

    Authors: Maxime N. Gottschalk, Max Heiland, Susanne Nahles, Robert Preissner, William A. Petri, Stephanie Wendy and Saskia Preissner
    Citation: Orphanet Journal of Rare Diseases 2023 18:50
  18. Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of d...

    Authors: Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz and Acary Souza Bulle Oliveira
    Citation: Orphanet Journal of Rare Diseases 2023 18:49
  19. This study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase (HLCS) deficiency, and to investigate the mutation spectrum of HCLS def...

    Authors: Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu and Lianshu Han
    Citation: Orphanet Journal of Rare Diseases 2023 18:48
  20. Haemophilia A is a bleeding disorder caused by deficiency of coagulation factor VIII (FVIII) which leads to severe and repeated bleedings. There is a need to understand the optimal treatment pathway for FVIII ...

    Authors: George Morgan, Emily Back, Doug Rosa, Jamie O’Hara and Alan Finnegan
    Citation: Orphanet Journal of Rare Diseases 2023 18:47
  21. Authors: Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto and Alessandro P. Burlina
    Citation: Orphanet Journal of Rare Diseases 2023 18:44

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:443

  22. To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region.

    Authors: Tsz-sum Wong, Kiran M. Belaramani, Chun-kong Chan, Wing-ki Chan, Wai-lun Larry Chan, Shek-kwan Chang, Sing-ngai Cheung, Ka-yin Cheung, Yuk-fai Cheung, Shuk-ching Josephine Chong, Chi-kwan Jasmine Chow, Hon-yin Brian Chung, Sin-ying Florence Fan, Wai-ming Joshua Fok, Ka-wing Fong, Tsui-hang Sharon Fung…
    Citation: Orphanet Journal of Rare Diseases 2023 18:43
  23. Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant epilepsy with multiple seizure types starting in childhood, a typical slow spike-wave patter...

    Authors: Adam Strzelczyk, Sameer M. Zuberi, Pasquale Striano, Felix Rosenow and Susanne Schubert-Bast
    Citation: Orphanet Journal of Rare Diseases 2023 18:42
  24. In recent years, significant advances have been made in the field of rare diseases (RDs). However, there is a large number of RDs without specific treatment and half of these treatments have public funding in ...

    Authors: N. Zozaya, J. Villaseca, F. Abdalla, A. Ancochea, I. Málaga, M. Trapero-Bertran, N. Martín-Sobrino, O. Delgado, P. Ferré and A. Hidalgo-Vega
    Citation: Orphanet Journal of Rare Diseases 2023 18:41
  25. Progressive lung function decline, resulting in respiratory failure, is an important complication of spinal muscular atrophy (SMA). The ability to predict the need for mechanical ventilation is important. We a...

    Authors: Esther S. Veldhoen, Camiel A. Wijngaarde, Ruben P. A. van Eijk, Fay-Lynn Asselman, Negina Seddiqi, Louise A. M. Otto, Marloes Stam, Inge Cuppen, Renske I. Wadman, Roelie M. Wösten van Asperen, Erik H. J. Hulzebos, Laura P. Verweij van den Oudenrijn, Bart Bartels, Jasmijn Boezer, M. Gaytant, Cornelis K. van der Ent…
    Citation: Orphanet Journal of Rare Diseases 2023 18:40
  26. Since the beginning of human genetic research, there are very few publications sharing insights of the negative impact of rare genetic skin diseases (RGSD) on patients’ experiences. This systematic review asse...

    Authors: Hugo Fournier, Nicolas Calcagni, Fanny Morice-Picard and Bruno Quintard
    Citation: Orphanet Journal of Rare Diseases 2023 18:39
  27. Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this ma...

    Authors: Carmen Liy-Wong, Cristina Tarango, Elena Pope, Thomas Coates, Anna L. Bruckner, James A. Feinstein, Agnes Schwieger-Briel, Lynne D. Hubbard, Clapham Jane, Mauricio Torres-Pradilla, Matija Zmazek and Irene Lara-Corrales
    Citation: Orphanet Journal of Rare Diseases 2023 18:38
  28. Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize availa...

    Authors: Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani and Christel Tran
    Citation: Orphanet Journal of Rare Diseases 2023 18:37
  29. Osteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and skeletal deformities. Extra-skeletal manifestations include dentinogenes...

    Authors: Darran Mc Donald, Tara Mc Donnell, Julie Martin-Grace, Gerry Mc Manus and Rachel K. Crowley
    Citation: Orphanet Journal of Rare Diseases 2023 18:36
  30. Symptomatic spinal stenosis is a prevalent complication in adults with achondroplasia. Increased muscle fat infiltration (MFI) and reduced thigh muscle volumes have also been reported, but the pathophysiology ...

    Authors: Svein O. Fredwall, Jennifer Linge, Olga de Vries, Olof Dahlqvist Leinhard, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Mikael Petersson, Per Widholm, Grethe Månum and Ravi Savarirayan
    Citation: Orphanet Journal of Rare Diseases 2023 18:35
  31. Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to ca...

    Authors: Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince and Oliver Semler
    Citation: Orphanet Journal of Rare Diseases 2023 18:34
  32. Long-term sequelae are frequent and often disabling after epidermal necrolysis (Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN)). However, consensus on the modalities of management of these...

    Authors: S. Ingen-Housz-Oro, V. Schmidt, M. M. Ameri, R. Abe, A. Brassard, A. Mostaghimi, A. S. Paller, A. Romano, B. Didona, B. H. Kaffenberger, B. Ben Said, B. Y. H. Thong, B. Ramsay, E. Brezinova, B. Milpied, C. G. Mortz…
    Citation: Orphanet Journal of Rare Diseases 2023 18:33
  33. Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new diseas...

    Authors: Berenike Leibrock, Erik Landfeldt, Justine Hussong, Tabea Huelle, Hannah Mattheus, Simone Thiele, Maggie C. Walter, Michael Zemlin, Eva Moehler, Ullrich Dillman, Sophia Abner and Marina Flotats-Bastardas
    Citation: Orphanet Journal of Rare Diseases 2023 18:32
  34. The objective of the study was to elaborate a conceptual framework related to the domains of patient experience along the cystic fibrosis (CF) journey from the patients and parents of children with CF to infor...

    Authors: D. Pougheon Bertrand, A. Fanchini, P. Lombrail, G. Rault, A. Chansard, N. Le Breton, C. Frenod, F. Milon, C. Heymes Royer, D. Segretain, M. Silber, S. Therouanne, J. Haesebaert, C. Llerena, P. Michel and Q. Reynaud
    Citation: Orphanet Journal of Rare Diseases 2023 18:31
  35. Intrathecal injection of medications can be challenging in spinal muscular atrophy (SMA) patients with severe scoliosis or after spine surgery. Here we report our experience with real-time ultrasound (US)-guid...

    Authors: Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen and Hui Xiong
    Citation: Orphanet Journal of Rare Diseases 2023 18:30
  36. Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease pa...

    Authors: Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato…
    Citation: Orphanet Journal of Rare Diseases 2023 18:28
  37. Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase acti...

    Authors: Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile and Mariasanta Napolitano
    Citation: Orphanet Journal of Rare Diseases 2023 18:27
  38. X-linked hypophosphataemia (XLH) is a rare genetic condition passed on through the X chromosome which causes multiple symptoms including weakened teeth, bones, and muscles. Due to the rarity of the condition, ...

    Authors: Sophie Cole, Maria T. Sanchez-Santos, Spyros Kolovos, Muhammad Kassim Javaid and Rafael Pinedo-Villanueva
    Citation: Orphanet Journal of Rare Diseases 2023 18:26
  39. Prader–Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human ...

    Authors: Ying Gao, Li-Li Yang, Yang-Li Dai, Zheng Shen, Qiong Zhou and Chao-Chun Zou
    Citation: Orphanet Journal of Rare Diseases 2023 18:25
  40. Autoantibodies against C1-inhibitor (C1-INH-Ab) have a diagnostic value in acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE), even though antibodies can circulate in complexes, which can be undet...

    Authors: Zsofia Polai, Erika Kajdacsi, Laszlo Cervenak, Zsuzsanna Balla, Szabolcs Benedek, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2023 18:24
  41. The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was ...

    Authors: Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro and Bart Loeys
    Citation: Orphanet Journal of Rare Diseases 2023 18:23
  42. Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to systematic...

    Authors: Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain and Mashael Al-Shafai
    Citation: Orphanet Journal of Rare Diseases 2023 18:22
  43. Pre-clinical research and development relies heavily upon translationally valid models of disease. A major difficulty in understanding the biology of, and developing treatments for, rare disease is the lack of...

    Authors: Eric J. Vallender, Charlotte E. Hotchkiss, Anne D. Lewis, Jeffrey Rogers, Joshua A. Stern, Samuel M. Peterson, Betsy Ferguson and Ken Sayers
    Citation: Orphanet Journal of Rare Diseases 2023 18:20
  44. Huntington’s disease is a complex neurodegenerative hereditary disease with symptoms in all domains of a person’s functioning. It begins after a healthy start in life and leads through the relentless progressi...

    Authors: Alzbeta Mühlbӓck, Marleen van Walsem, Martha Nance, Astri Arnesen, Kirsty Page, Alexandra Fisher, Manon van Kampen, Angela Nuzzi, Roy Limpert, Hanne Ludt Fossmo, Travis Cruickshank and Ruth Veenhuizen
    Citation: Orphanet Journal of Rare Diseases 2023 18:19
  45. Rare bone diseases (RBDs) are a set of inherited rare diseases that can cause disability and have a devastating impact on families affected, which may lead to a particular high prevalence of psychological diso...

    Authors: Xuefeng Lai, Yuling Jiang, Yue Sun, Zhijun Zhang and Shengfeng Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:18
  46. Hereditary transthyretin amyloidosis (ATTRv) is an ultra-rare, life-shortening disease with a high unmet need. This study examined ATTRv caregiver health-related quality of life (HRQoL) and productivity.

    Authors: Sarah Acaster, Siu Hing Lo and Sandra Nestler-Parr
    Citation: Orphanet Journal of Rare Diseases 2023 18:17