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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. Recently approved treatments for spinal muscular atrophy (SMA) may shift clinical care priorities to secondary complications associated with SMA-related aging. To date, there is little knowledge about the natu...

    Authors: Daniel G. Whitney, Erin E. Neil Knierbein and Alecia K. Daunter
    Citation: Orphanet Journal of Rare Diseases 2023 18:258
  12. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron ac...

    Authors: Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade and David Rintell
    Citation: Orphanet Journal of Rare Diseases 2023 18:257
  13. 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
  14. 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
  15. 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
  16. The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration project...

    Authors: Karl Gisslander, Aladdin J Mohammad, Augusto Vaglio and Mark A Little
    Citation: Orphanet Journal of Rare Diseases 2023 18:253
  17. β-thalassaemia major poses a substantial economic burden, especially in adults. We aimed to estimate the economic burden of adult patients with β-thalassaemia major from a societal perspective using the real-w...

    Authors: Xuemei Zhen, Jing Ming, Runqi Zhang, Shuo Zhang, Jing Xie, Baoguo Liu, Zijing Wang, Xiaojie Sun and Lizheng Shi
    Citation: Orphanet Journal of Rare Diseases 2023 18:252
  18. Thoracic aortic aneurysm or dissections (TAADs) represent a group of life-threatening diseases. Genetic aetiology can affect the age of onset, clinical phenotype, and timing of intervention. We conducted a pro...

    Authors: Yanyu Duan, Jianxian Xiong, Zhenghong Lai, Yiming Zhong, Chengnan Tian, Zhiming Du, Zhifang Luo, Junjian Yu, Wentong Li, Weichang Xu, Yabing Wang, Ting Ding, Xuehong Zhong, Mengmeng Pan, Yu Qiu, Xuemei Lan…
    Citation: Orphanet Journal of Rare Diseases 2023 18:251
  19. Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations an...

    Authors: Zhendong Wang, Zhenfu Sun, Yujie Diao, Zhouyang Wang, Xiangdong Yang, Bei Jiang, Yumei Wu and Guangyi Liu
    Citation: Orphanet Journal of Rare Diseases 2023 18:250
  20. Hereditary spastic paraplegias (HSPs) cause characteristic gait impairment leading to an increased risk of stumbling or even falling. Biomechanically, gait deficits are characterized by reduced ranges of motio...

    Authors: Malte Ollenschläger, Patrick Höfner, Martin Ullrich, Felix Kluge, Teresa Greinwalder, Evelyn Loris, Martin Regensburger, Bjoern M. Eskofier, Jürgen Winkler and Heiko Gaßner
    Citation: Orphanet Journal of Rare Diseases 2023 18:249
  21. Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, r...

    Authors: Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti and Maria Vittoria Cubellis
    Citation: Orphanet Journal of Rare Diseases 2023 18:247
  22. One of the most prevalent cancers in the world is lung cancer, with adenocarcinoma (LUAD) making up a significant portion of cases. According to the National Cancer Institute (NCI), there are new cases and fat...

    Authors: Bowen Xu, Jingang Zhang, Weigang Chen and Wei Cai
    Citation: Orphanet Journal of Rare Diseases 2023 18:246
  23. There are currently no models for the transition of patients with metabolic bone diseases (MBDs) from paediatric to adult care. The aim of this project was to analyse information on the experience of physician...

    Authors: Enrique Casado, Carlos Gómez-Alonso, Guillem Pintos-Morell, Rosa Bou-Torrent, Ana Coral Barreda-Bonis, José Vicente Torregrosa, José Jesús Broseta-Monzó, Pedro Arango-Sancho, Sara Chocrón-de-Benzaquen, Yoko Olmedilla-Ishishi and Begoña Soler-López
    Citation: Orphanet Journal of Rare Diseases 2023 18:245
  24. Gaucher’s disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone...

    Authors: Junchao Feng, Zhongchun Gao, Zhao Shi, Yue Wang and Shunping Li
    Citation: Orphanet Journal of Rare Diseases 2023 18:244
  25. Although bronchiectasis has been recognised as a feature of some patients with Alpha1-Antitrypsin deficiency the prevalence and characteristics are not widely known. We wished to determine the prevalence of br...

    Authors: Robert A. Stockley, Anita Pye, Joshua De Soyza, Alice M. Turner and Marc Miravitlles
    Citation: Orphanet Journal of Rare Diseases 2023 18:243
  26. A rare disease (RD) diagnosis and therapy can affect the family’s quality of life and mental health. A lack of information and missing care options lead to helplessness and psychological stress within families...

    Authors: Stefanie Witt, Katharina Schuett, Silke Wiegand-Grefe, Johannes Boettcher and Julia Quitmann
    Citation: Orphanet Journal of Rare Diseases 2023 18:242
  27. A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patient...

    Authors: Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi…
    Citation: Orphanet Journal of Rare Diseases 2023 18:241
  28. Genetic testing can facilitate the diagnosis and subsequent therapeutic management of rare diseases. However, there is a lack of data on the use of genetic testing for rare diseases. This study aims to describ...

    Authors: Weida Liu, Peng Liu, Dan Guo, Ye Jin, Kun Zhao, Jiayin Zheng, Kexin Li, Linkang Li and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:240
  29. Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute ...

    Authors: Amaury Loret, Claire Jacob, Saloua Mammou, Adrien Bigot, Hélène Blasco, Alexandra Audemard-Verger, Ida VD Schwartz, Denis Mulleman and François Maillot
    Citation: Orphanet Journal of Rare Diseases 2023 18:239
  30. X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among m...

    Authors: Caroline Sevin, Samira Hatteb, Aurore Clément, Fabrizia Bignami, Louis Chillotti, Françoise Bugnard, Stève Bénard and Odile Boespflug-Tanguy
    Citation: Orphanet Journal of Rare Diseases 2023 18:238
  31. Children born with esophageal atresia experience feeding difficulties. This study investigates the association of feeding difficulties and generic health-related quality of life among children aged 2–7 and 8–1...

    Authors: Sofie Örnö Ax, Michaela Dellenmark-Blom, Kate Abrahamsson, Linus Jönsson and Vladimir Gatzinsky
    Citation: Orphanet Journal of Rare Diseases 2023 18:237
  32. Rare diseases have become a major public health concern worldwide. However, detailed epidemiological data are lacking. With the development of the Internet, search queries have played an important role in dise...

    Authors: Lei Zhang, Ye Jin, Jiayu Li, Zhiyu He, Dingding Zhang, Min Zhang and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:236
  33. Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes.

    Authors: Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez and Eunice Jeffs
    Citation: Orphanet Journal of Rare Diseases 2023 18:235
  34. Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previ...

    Authors: Hongjie Yu, Changrong Li, Huixiao Wu, Weibo Xia, Yanzhou Wang, Jiajun Zhao and Chao Xu
    Citation: Orphanet Journal of Rare Diseases 2023 18:234
  35. Children with long-gap esophageal atresia (LGEA) risk living with aerodigestive morbidity and mental health difficulties. No previous study has investigated their experiences of schooling, despite the importan...

    Authors: M. Dellenmark-Blom, C. Reilly, E. Öst, S. Örnö Ax, J. F. Svensson, A.-M. Kassa, L. Jönsson, K. Abrahamsson, V. Gatzinsky, AM. Tollne, E. Omling, P. Stenström and H. Engstrand Lilja
    Citation: Orphanet Journal of Rare Diseases 2023 18:233
  36. Prophylaxis therapy for children with moderate and severe hemophilia A (HA) is the optimal treatment regimen. The real-world treatment regimens, patient-reported outcomes, and health-related quality of life (H...

    Authors: Luying Zhang, Peng Zhang and Wen Chen
    Citation: Orphanet Journal of Rare Diseases 2023 18:232
  37. Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (I...

    Authors: Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan and Lock-Hock Ngu
    Citation: Orphanet Journal of Rare Diseases 2023 18:231
  38. Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying dr...

    Authors: Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz and Anna Kostera-Pruszczyk
    Citation: Orphanet Journal of Rare Diseases 2023 18:230
  39. Drug development is a complex, resource intensive and long process in any disease area, and developing medicines to treat rare diseases presents even more challenges due to the small patient populations, often...

    Authors: Anneliene Hechtelt Jonker, Liliana Batista, Michela Gabaldo, Virginie Hivert and Diego Ardigo
    Citation: Orphanet Journal of Rare Diseases 2023 18:229
  40. Inherited metabolic disorders (IMDs) usually occurs at young age and hence it severely threatening the health and life of young people. While so far there lacks a comprehensive study which can reveals China’s ...

    Authors: Beibei Zhao, Peichun Chen, Xuhui She, Xiuru Chen, Zhou Ni, Duo Zhou, Zinan Yu, Chang Liu and Xinwen Huang
    Citation: Orphanet Journal of Rare Diseases 2023 18:228
  41. Haemophilia A carries a substantial healthcare burden, affecting health-related quality of life (HRQoL). The Cost of Haemophilia in Men: a Socioeconomic Survey II (CHESS II), a retrospective real-world study, ...

    Authors: Lisa Young, Yong Chen, José Alvir, Tom Burke, Enrico Ferri Grazzi and Ian Winburn
    Citation: Orphanet Journal of Rare Diseases 2023 18:227
  42. Haemophilia A is a rare, hereditary haemorrhagic disease that manifests as induced spontaneous bleeding and leads to disability or premature death in severe cases. Prophylactic treatment is optimal for patient...

    Authors: Ziyu Liu, Junchao Feng, Yunhai Fang, Yan Cheng and Shunping Li
    Citation: Orphanet Journal of Rare Diseases 2023 18:226
  43. Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopa...

    Authors: Sara A. Lewis, Sheetal Shetty, Sean Gamble, Jennifer Heim, Ningning Zhao, Gideon Stitt, Matthew Pankratz, Tara Mangum, Iris Marku, Robert B. Rosenberg, Angus A. Wilfong, Michael C. Fahey, Sukhan Kim, Scott J. Myers, Brian Appavu and Michael C. Kruer
    Citation: Orphanet Journal of Rare Diseases 2023 18:225
  44. Developing drugs for rare diseases is challenging, and the precision and objectivity of outcome measures is critical to this process. In recent years, a number of technologies have increasingly been used for r...

    Authors: Margaux Poleur, Theodora Markati and Laurent Servais
    Citation: Orphanet Journal of Rare Diseases 2023 18:224
  45. Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impact...

    Authors: Vittoria Murro, Sandro Banfi, Francesco Testa, Giancarlo Iarossi, Benedetto Falsini, Andrea Sodi, Sabrina Signorini, Achille Iolascon, Roberta Russo, Dario Pasquale Mucciolo, Roberto Caputo, Giacomo Maria Bacci, Sara Bargiacchi, Simona Turco, Stefania Fortini and Francesca Simonelli
    Citation: Orphanet Journal of Rare Diseases 2023 18:223
  46. Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and ot...

    Authors: Meriah S. Schoen, Kelly M. Boland, Shawn E. Christ, Xiangqin Cui, Usha Ramakrishnan, Thomas R. Ziegler, Jessica A. Alvarez and Rani H. Singh
    Citation: Orphanet Journal of Rare Diseases 2023 18:222
  47. In biomedicine, machine learning (ML) has proven beneficial for the prognosis and diagnosis of different diseases, including cancer and neurodegenerative disorders. For rare diseases, however, the requirement ...

    Authors: Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke M. C. van Roon-Mom, Susanne T. de Bot, Katherine J. Wolstencroft and Eleni Mina
    Citation: Orphanet Journal of Rare Diseases 2023 18:218