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  1. X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis m...

    Authors: Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik…
    Citation: Orphanet Journal of Rare Diseases 2023 18:304
  2. The aims of this paper is to search and explore publications in the field of pharmacovigilance for rare diseases and to visualize general information, research hotspots, frontiers and future trends in the fiel...

    Authors: Mengdan Xu, Guozhi Li, Jiazhao Li, Huiyu Xiong and Suzhen He
    Citation: Orphanet Journal of Rare Diseases 2023 18:303
  3. Mepolizumab at the dose of 300 mg/4 weeks has been recently approved as an add-on therapy for patients with uncontrolled hypereosinophilic syndrome (HES) without any identifiable non-hematologic secondary caus...

    Authors: Marco Caminati, Matteo Maule, Roberto Benoni, Claudio Micheletto, Cristina Tecchio, Rachele Vaia, Lucia De Franceschi, Gabriella Guarnieri, Andrea Vianello and Gianenrico Senna
    Citation: Orphanet Journal of Rare Diseases 2023 18:302
  4. Glioblastoma (GBM) is the most aggressive and common malignant primary brain tumor; however, treatment remains a significant challenge. This study aims to identify drug repurposing or repositioning candidates ...

    Authors: Erin McGowan, Jaleal Sanjak, Ewy A. Mathé and Qian Zhu
    Citation: Orphanet Journal of Rare Diseases 2023 18:301
  5. Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated class...

    Authors: Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp and Regula Everts
    Citation: Orphanet Journal of Rare Diseases 2023 18:300
  6. Chronic active Epstein–Barr virus infection (CAEBV) and Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) are rare but life-threatening progressive diseases triggered by EBV infection....

    Authors: Ruyue Chen, Qiang Lin, Yun Zhu, Yunyan Shen, Qinying Xu, Hanyun Tang, Ningxun Cui, Lu Jiang, Xiaomei Dai, Weiqing Chen and Xiaozhong Li
    Citation: Orphanet Journal of Rare Diseases 2023 18:297
  7. The European Reference Network for craniofacial anomalies and ear, nose and throat disorders (ERN-CRANIO) aims to improve craniofacial care on a European scale. Within ERN-CRANIO, the cleft lip and palate (CL/...

    Authors: S. Ombashi, P. A. J. van der Goes, S. L. Versnel, R. H. Khonsari and A. E. Mink van der Molen
    Citation: Orphanet Journal of Rare Diseases 2023 18:296
  8. Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting scoliosis in OI are not well known.

    Authors: Peikai Chen, Yapeng Zhou, Zhijia Tan, Yunzhi Lin, Daniel Li-Liang Lin, Jingwei Wu, Zeluan Li, Hiu Tung Shek, Jianbin Wu, Yong Hu, Feng Zhu, Danny Chan, Kenneth Man-Chee Cheung and Michael Kai-Tsun To
    Citation: Orphanet Journal of Rare Diseases 2023 18:295
  9. The Ehlers-Danlos syndromes are a group of clinically and genetically heterogeneous hereditary diseases affecting the connective tissue. They are characterized by hypermobility of the joints, hyperextensible s...

    Authors: Leon Willich, Lauren Bohner, Jeanette Köppe, Jochen Jackowski, Marcel Hanisch and Ole Oelerich
    Citation: Orphanet Journal of Rare Diseases 2023 18:294
  10. Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be class...

    Authors: Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang and Ni-Chung Lee
    Citation: Orphanet Journal of Rare Diseases 2023 18:293
  11. Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and p...

    Authors: Sandra D.K. Kingma, Julie Neven, An Bael, Marije E.C. Meuwissen and Machiel van den Akker
    Citation: Orphanet Journal of Rare Diseases 2023 18:291
  12. An association between punctate palmoplantar keratoderma type 1 (PPPK1) and malignancy has been proposed for decades. Some authors suggest that individuals with PPPK1 should undergo screening for various types...

    Authors: S. B. Gram, J. Bjerrelund, A. M. Jelsig, A. Bygum, C. Leboeuf-Yde and L. B. Ousager
    Citation: Orphanet Journal of Rare Diseases 2023 18:290
  13. Transthyretin cardiac cardiomyopathy (ATTR-CM) is a rare but life-threatening disease. Tafamidis is an effective treatment for patients with ATTR-CM, however its long-term effects on cardiac remodeling and car...

    Authors: Cheng-Hsuan Tsai, Chi-Chao Chao, Sung-Tsang Hsieh, An-Li Yu, Yuan-Kun (Aden) Wu, Mei-Fang Cheng, Ming-Jen Lee, Chia-Hung Chou, Chia-Tung Shun, Hsueh-Wen Hsueh, Jimmy Jyh-Ming Juang, Ping-Huei Tseng, Mao-Yuan Su and Yen-Hung Lin
    Citation: Orphanet Journal of Rare Diseases 2023 18:289
  14. Klippel-Trénaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in Klippel-Trénaunay syndrome. Rectal bleeding i...

    Authors: Huaijie Wang, Weilong Lin, Chong Xie, Weijia Yang, Jinbang Zhou and Zhengtuan Guo
    Citation: Orphanet Journal of Rare Diseases 2023 18:288
  15. We consider two key challenges that early-stage biotechnology firms face in developing a sustainable financing strategy and a sustainable business model: developing a valuation model for drug compounds, and ch...

    Authors: Bechara Abouarab, Christian Bazarian, Zied Ben Chaouch, Andrew W. Lo, Guillermo Mourenza Gonzalez, Richard Novak and Frederic Vigneault
    Citation: Orphanet Journal of Rare Diseases 2023 18:287
  16. The Covid pandemic seems to have had several detrimental effects on managing patients affected by inherited metabolic diseases (IMD), although published data about the impact of COVID-19 on patients suffering ...

    Authors: Lucia Brodosi, Michele Stecchi, Dorina Mita, Francesca Marchignoli, Valeria Guarneri, Giulio Agnelli, Valentino Osti, Federica Perazza, Federica Sacilotto, Andrea Pession and Loris Pironi
    Citation: Orphanet Journal of Rare Diseases 2023 18:286
  17. Necessity driven organisational change in the post-pandemic landscape has seen health care providers adopting innovations to manage and process health data. These include the use of ‘real-world’ datasets of ro...

    Authors: Ameenat Lola Solebo, Pirro Hysi, Lisanne Andra Horvat-Gitsels and Jugnoo Sangeeta Rahi
    Citation: Orphanet Journal of Rare Diseases 2023 18:285
  18. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual dis...

    Authors: Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang and Xiumin Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:284
  19. Female carriers of dystrophin gene mutations (DMD-FC) were previously considered non-manifesting, but in recent decades, cardiomyopathy associated with muscular dystrophy and myocardial fibrosis has been descr...

    Authors: Masárová Lucia, Panovský Roman, Pešl Martin, Mojica-Pisciotti Mary Luz, Holeček Tomáš, Kincl Vladimír, Juříková Lenka, Máchal Jan, Opatřil Lukáš and Feitová Věra
    Citation: Orphanet Journal of Rare Diseases 2023 18:283
  20. Wilson’s disease (WD) is a hereditary disorder that results in the accumulation of copper. The pathogenic mechanism is not well understood, and diagnosing the disease can be challenging, as it shares similarit...

    Authors: Yijie Qiu, Mingchuan Su, Xina Xiao, Dingzi Zhou and Linshen Xie
    Citation: Orphanet Journal of Rare Diseases 2023 18:282
  21. Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hyd...

    Authors: Yixing Zhang, Chuwen Peng, Lifang Wang, Sitong Chen, Junwei Wang, Ziheng Tian, Chuangong Wang, Xiaoxin Chen, Suhong Zhu, Guo-Fang Zhang and You Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:281
  22. Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. Yet, many endure years-long diagnostic odysseys. We ...

    Authors: Amanda Wilson, Alexandra Chiorean, Mario Aguiar, Davorka Sekulic, Patrick Pavlick, Neha Shah, Lisa Sniderman King, Marie Génin, Mélissa Rollot, Margot Blanchon, Simon Gosset, Martin Montmerle, Cliona Molony and Alexandra Dumitriu
    Citation: Orphanet Journal of Rare Diseases 2023 18:280
  23. Skeletal dysplasias are a diverse group of rare disorders in the chondro-osseous tissue that can have a significant impact on patient’s functionality. The worldwide prevalence of skeletal dysplasias at birth i...

    Authors: Yasas D. Kolambage, Yasaswi N. Walpita, Udari A. Liyanage, Buddika M.K.D.R. Dayaratne and Vajira H.W. Dissanayake
    Citation: Orphanet Journal of Rare Diseases 2023 18:279
  24. This study aimed to establish a cell-free fetal DNA (cffDNA) assay using multiplex digital PCR (dPCR) for identifying fetuses at increased risk of 22q11.2 deletion/duplication syndrome.

    Authors: Jing Wang, Wei Wang, Wenbo Zhou, Yan Zhou, Linna Zhou, Xinyue Wang, Bin Yu and Bin Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:278
  25. Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of develo...

    Authors: Suzanne M. Nevin, Brittany C. McGill, Lauren Kelada, Gail Hilton, Megan Maack, Kristina L. Elvidge, Michelle A. Farrar, Gareth Baynam, Naomi T. Katz, Leigh Donovan, Sarah Grattan, Christina Signorelli, Kaustuv Bhattacharya, Kenneth Nunn and Claire E. Wakefield
    Citation: Orphanet Journal of Rare Diseases 2023 18:277
  26. Sarcoidosis is a multisystemic disease, with the lungs being the main site of manifestation. Although the exact etiology remains unclear, both genetic and environmental factors are being discussed. Diagnostic ...

    Authors: Charlotte Hilker, Johanna Weis, Stefanie Ziehfreund, Elizabeth V. Arkema, Tilo Biedermann and Alexander Zink
    Citation: Orphanet Journal of Rare Diseases 2023 18:276
  27. Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its ...

    Authors: Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li and Allan Zijian Zhao
    Citation: Orphanet Journal of Rare Diseases 2023 18:275
  28. Phelan-McDermid syndrome (PMS) is a rare multisystem disease with global developmental delay and autistic features. Genetically, the disease is based on a heterozygous deletion of chromosome 22q13.3 with invol...

    Authors: Sarah Jesse, Hans-Peter Müller, Hans-Jürgen Huppertz, Stephanie Andres, Albert C. Ludolph, Michael Schön, Tobias M. Boeckers and Jan Kassubek
    Citation: Orphanet Journal of Rare Diseases 2023 18:274
  29. Duchenne muscular dystrophy (DMD) is a fatal genetic muscle-wasting disease that affects 1 in 5000 male births with no current cure. Despite great progress has been made in the research of DMD, its underlying ...

    Authors: Huayan Xu, Xiaotang Cai, Ke Xu, Qihong Wu and Bei Xu
    Citation: Orphanet Journal of Rare Diseases 2023 18:273
  30. Notwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5–6% of rare diseases have dedicated treatments. Given with the huge number of...

    Authors: Victoria Hedley, Matt Bolz-Johnson, Ines Hernando, Rosalind Kenward, Rima Nabbout, Clara Romero, Franz Schaefer and Sheela Upadhyaya
    Citation: Orphanet Journal of Rare Diseases 2023 18:272
  31. Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopat...

    Authors: Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki and Hind Alsharhan
    Citation: Orphanet Journal of Rare Diseases 2023 18:271
  32. Klippel–Trenaunay syndrome (KTS) is a rare slow-flow combined vascular malformation with limb hypertrophy. KTS is thought to lie on the PIK3CA-related overgrowth spectrum, but reports are limited. PIK3CA encodes ...

    Authors: Yuki Sasaki, Kosuke Ishikawa, Kanako C. Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto and Satoru Sasaki
    Citation: Orphanet Journal of Rare Diseases 2023 18:270
  33. A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported fea...

    Authors: Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Carolyn E. Pizoli, Edward C. Smith, Queenie K.-G. Tan and Vandana Shashi
    Citation: Orphanet Journal of Rare Diseases 2023 18:269
  34. Inherited epidermolysis bullosa (EB) is a cluster of rare, genetic skin and mucosal fragility disorders with multi-system and secondary effects, in which blistering and erosions occur in response to friction/m...

    Authors: Mark P. Popenhagen, Paola Genovese, Mo Blishen, Dilini Rajapakse, Anja Diem, Alex King, Jennifer Chan, Eduard Pellicer Arasa, Simone Baird, Anna Carolina Ferreira da Rocha, Gideon Stitt, Kellie Badger, Vlasta Zmazek, Faiza Ambreen, Caroline Mackenzie, Harper Price…
    Citation: Orphanet Journal of Rare Diseases 2023 18:268
  35. Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested t...

    Authors: Monica Mazzucato, Laura Visonà Dalla Pozza, Paola Facchin, Cèline Angin, Francis Agius, Clara Cavero-Carbonell, Virginia Corrochano, Katerina Hanusova, Kurt Kirch, Deborah Lambert, Caterina Lucano, Sylvie Maiella, Monica Panzaru, Cristina Rusu, Stefanie Weber, Oscar Zurriaga…
    Citation: Orphanet Journal of Rare Diseases 2023 18:267
  36. Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activit...

    Authors: Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis and Graeme C. Black
    Citation: Orphanet Journal of Rare Diseases 2023 18:265
  37. Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial...

    Authors: Sophia Zilber, Kasey Woleben, Simon C. Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Kevin Freiert, Courtney Boggs, Souad Messahel, Melinda J. Burnworth, Titilola M. Afolabi and Saima Kayani
    Citation: Orphanet Journal of Rare Diseases 2023 18:264
  38. Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of genetic factors on disease progression has...

    Authors: Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W. Vander Kooi, Matthew S. Gentry and Francesca Bisulli
    Citation: Orphanet Journal of Rare Diseases 2023 18:263
  39. When assessing the efficacy of a treatment in any clinical trial, it is recommended by the International Conference on Harmonisation to select a single meaningful endpoint. However, a single endpoint is often ...

    Authors: Johan Verbeeck, Maya Dirani, Johann W. Bauer, Ralf-Dieter Hilgers, Geert Molenberghs and Rima Nabbout
    Citation: Orphanet Journal of Rare Diseases 2023 18:262
  40. Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, ...

    Authors: Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin and Lin Ma
    Citation: Orphanet Journal of Rare Diseases 2023 18:261
  41. Rare diseases affect a small number of people compared to prevalent diseases. The vast majority of these diseases are of genetic origin, have no cure, are chronic and can lead to death. Although the right to a...

    Authors: Cássia Cunico, Geison Vicente and Silvana Nair Leite
    Citation: Orphanet Journal of Rare Diseases 2023 18:259
  42. The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine ...

    Authors: Mónica López-Rodríguez, Miguel Angel Torralba-Cabeza, Iván Pérez de Pedro, Alberto Rivera, Roi Suarez Gil, Ana Gómez-Belda, Jose Luis Patier de la Peña, Alberto de los Santos Moreno, Albert Selva-O’Callaghan, Igor Gómez Gárate, Andrés González García, Roberto Hurtado, Pablo Tutor de Ureta, Miguel Ángel Barba-Romero, José C. Milisenda and Josep M. Grau-Junyent
    Citation: Orphanet Journal of Rare Diseases 2023 18:256
  43. Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused ...

    Authors: E. Cisneros-Barroso, F. Gorram, M. A. Ribot-Sansó, F. Alarcon, G. Nuel, J. González-Moreno, A. Rodríguez, J. Hernandez-Rodriguez, E. Amengual-Cladera, I. Martínez-López, T. Ripoll-Vera, I. Losada-López, D. Heine-Suñer and V. Plante-Bordeneuve
    Citation: Orphanet Journal of Rare Diseases 2023 18:255
  44. To identify the nature and extent of the evidence on psychological interventions among individuals with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD).

    Authors: Jessica Z. Song, Dorothy Luong, Estée C. H. Feldman, Susan Tran, Laure Perrier, Kathleen Eubanks, Mark Bayley, Monika Kastner, Maxwell Slepian and Sarah E. P. Munce
    Citation: Orphanet Journal of Rare Diseases 2023 18:254