Skip to main content

Articles

Page 21 of 83

  1. A congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarel...

    Authors: Anne C. Fledderus, Anna Linn Widdershoven, Oren Lapid, Corstiaan C. Breugem, Suzanne G. M. A. Pasmans, Chantal M. A. M. van der Horst, Marc M. Engelen and Phyllis I. Spuls
    Citation: Orphanet Journal of Rare Diseases 2022 17:95
    Content type: Review Published on:

  2. Rosai–Dorfman–Destombes disease (RDD) is a rare histiocytic disorder with heterogeneous clinical manifestations and rare neurologic involvement. The existing clinical literature about neurologic RDD has yet to...

    Authors: Ruham Alshiekh Nasany, Anne S. Reiner, Jasmine H. Francis, Oussama Abla, Katherine S. Panageas and Eli L. Diamond
    Citation: Orphanet Journal of Rare Diseases 2022 17:92
    Content type: Research Published on:

  3. We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different gene...

    Authors: Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond and Martine Doco Fenzy
    Citation: Orphanet Journal of Rare Diseases 2022 17:86
    Content type: Research Published on:

  4. The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish populati...

    Authors: Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea and Miguel Urioste
    Citation: Orphanet Journal of Rare Diseases 2022 17:85
    Content type: Research Published on:

  6. The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rar...

    Authors: Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida V. D. Schwartz, Jonas A. Saute, Victor E. F. Ferraz, Angelina X. Acosta, Ney Boa Sorte and Domingos Alves
    Citation: Orphanet Journal of Rare Diseases 2022 17:84
    Content type: Position statement Published on:

  7. GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, a...

    Authors: Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani and Franco Antoniazzi
    Citation: Orphanet Journal of Rare Diseases 2022 17:83
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:169

  8. Wilson disease is an autosomal recessive disease of liver copper metabolism with predominant hepatic and neurological manifestations. Long-term data on the clinical follow-up and treatment efficacy are limited...

    Authors: Isabel Garrido, Margarida Marques, Rodrigo Liberal, Hélder Cardoso, Susana Lopes and Guilherme Macedo
    Citation: Orphanet Journal of Rare Diseases 2022 17:82
    Content type: Research Published on:

  9. Accurate measurement of any constructs in clinical studies is of critical importance, especially if the adoption of an intervention relies on detecting a significant treatment effect where one exists. Under Ne...

    Authors: Ravi Jandhyala
    Citation: Orphanet Journal of Rare Diseases 2022 17:81
    Content type: Research Published on:

  11. Myotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects that impact the skeletal muscles, eyes, heart, skin and gastrointestinal, endocrine, respiratory, and central nervous systems. ...

    Authors: Sarah J. Howe, David Lapidus, Michael Hull, Jason Yeaw, Tanya Stevenson and Jacinda B. Sampson
    Citation: Orphanet Journal of Rare Diseases 2022 17:79
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:260

  12. Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The severity of HPP is widely diverse from the perinatal ...

    Authors: Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama and Kei Murayama
    Citation: Orphanet Journal of Rare Diseases 2022 17:78
    Content type: Research Published on:

  13. Prader–Willi syndrome (PWS) is a complex multisystem genetic disorder with distinct genetic and clinical features. Among other clinical symptoms, PWS is characterized by severe infantile hypotonia with feeding...

    Authors: Gisela Vasconcelos, Jo S. Stenehjem, Stefan Axelsson and Ronnaug Saeves
    Citation: Orphanet Journal of Rare Diseases 2022 17:77
    Content type: Research Published on:

  14. The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diag...

    Authors: Simona D. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura Arbour and Maja Tarailo-Graovac
    Citation: Orphanet Journal of Rare Diseases 2022 17:76
    Content type: Research Published on:

  15. MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approve...

    Authors: Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier and Karen Aiach
    Citation: Orphanet Journal of Rare Diseases 2022 17:75
    Content type: Research Published on:

  16. Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondr...

    Authors: Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini and Luca Sangiorgi
    Citation: Orphanet Journal of Rare Diseases 2022 17:74
    Content type: Research Published on:

  17. In France, the cystic fibrosis (CF) care pathway is coordinated by multidisciplinary teams from specialised CF centres or transplant centres. It includes the care provided at home or out of hospital, risk prev...

    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 2022 17:73
    Content type: Research Published on:

  18. Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron ...

    Authors: Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg and Mette Christophersen Tollånes
    Citation: Orphanet Journal of Rare Diseases 2022 17:72
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:180

  19. Respiratory complications are the most important cause of morbidity and mortality in spinal muscular atrophy (SMA). Respiratory muscle weakness results in impaired cough, recurrent respiratory tract infections...

    Authors: Esther S. Veldhoen, Camiel A. Wijngaarde, Erik H. J. Hulzebos, Roelie M. Wösten-van Asperen, Renske I. Wadman, Ruben P. A. van Eijk, Fay Lynn Asselman, Marloes Stam, Louise A. M. Otto, Inge Cuppen, Feline E. V. Scheijmans, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Michael A. Gaytant, Cornelis K. van der Ent and W. Ludo van der Pol
    Citation: Orphanet Journal of Rare Diseases 2022 17:70
    Content type: Research Published on:

  20. Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We...

    Authors: J. E. Whittington, A. J. Holland, D. J. Driscoll, N. Hodebeck-Stuntebeck and A. Hoctor
    Citation: Orphanet Journal of Rare Diseases 2022 17:69
    Content type: Research Published on:

  21. Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expec...

    Authors: Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier and Nadia Belmatoug
    Citation: Orphanet Journal of Rare Diseases 2022 17:68
    Content type: Research Published on:

  22. 22q11.2 deletion syndrome (22q11.2DS) is a rare disease with an important characteristic—clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic...

    Authors: Isabela Mayá Wayhs Silva and Vera Lúcia Gil-da-Silva-Lopes
    Citation: Orphanet Journal of Rare Diseases 2022 17:67
    Content type: Research Published on:

  23. Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NB...

    Authors: Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jianbin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao and Zhengyan Zhao
    Citation: Orphanet Journal of Rare Diseases 2022 17:66
    Content type: Research Published on:

  24. POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The purpose of this study was to investigate the clinical chara...

    Authors: Ying Chen, Jiajun Qiu, Yingwei Wu, Huan Jia, Yi Jiang, Mengda Jiang, Zhili Wang, Hai-Bin Sheng, Lingxiang Hu, Zhihua Zhang, Zhaoyan Wang, Yun Li, Zhiwu Huang and Hao Wu
    Citation: Orphanet Journal of Rare Diseases 2022 17:65
    Content type: Research Published on:

  25. Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic disorder caused by STK11 mutation with a predisposition to gastrointestinal polyposis and cancer. PJS patients suffer poor quality of life and are ...

    Authors: Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu and Yingpu Sun
    Citation: Orphanet Journal of Rare Diseases 2022 17:64
    Content type: Research Published on:

  26. Cenegermin (Oxervate, Dompè Farmaceutici, Milan, IT), a recombinant human NGF, is a potentially healing new drug for neurotrophic keratopathy (NK), a rare but challenging disease affecting the cornea. To date,...

    Authors: Emilio Pedrotti, Erika Bonacci, Chiara Chierego, Alessandra De Gregorio, Tiziano Cozzini, Tommaso Brighenti, Grazia Caldarella, Giovanlorenzo Pastore, Adriano Fasolo and Giorgio Marchini
    Citation: Orphanet Journal of Rare Diseases 2022 17:63
    Content type: Research Published on:

  27. Current world experience regarding living donor liver transplantation (LDLT) in the treatment of propionic acidemia (PA) is limited, especially in terms of using obligate heterozygous carriers as donors. This ...

    Authors: Zhi-Gui Zeng, Guang-Peng Zhou, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Li-Ying Sun and Zhi-Jun Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:62
    Content type: Research Published on:

  28. Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and tr...

    Authors: Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall and Paul S. Thornton
    Citation: Orphanet Journal of Rare Diseases 2022 17:61
    Content type: Review Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:205

  29. Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These disea...

    Authors: María Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, Jordi Corominas, Raquel Rabionet, Susana Puig and Irene Madrigal
    Citation: Orphanet Journal of Rare Diseases 2022 17:60
    Content type: Research Published on:

  30. Authors: Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo and Tero-Pekka Alastalo
    Citation: Orphanet Journal of Rare Diseases 2022 17:59
    Content type: Correction Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:412

  31. Central diabetes insipidus (CDI) is a rare condition, with significant impact on patient health and well-being. It is a chronic condition which usually requires meticulous long-term care. It can affect both ch...

    Authors: H. Teare, J. Argente, M. Dattani, J. Leger, M. Maghnie, M. Sherlock, G.-C. Ali, J. Francombe and S. Marjanovic
    Citation: Orphanet Journal of Rare Diseases 2022 17:58
    Content type: Review Published on:

  32. Neurotrophic keratopathy (NK) is a rare, degenerative ocular disease characterized by reduction or loss of corneal sensitivity and development of non-healing corneal epithelial defects and ulcers. Cenegermin, ...

    Authors: Alice Bruscolini, Marco Marenco, Giuseppe Maria Albanese, Alessandro Lambiase and Marta Sacchetti
    Citation: Orphanet Journal of Rare Diseases 2022 17:57
    Content type: Research Published on:

  33. Observational studies have suggested a close but controversial relationship between blood pressure (BP) and amyotrophic lateral sclerosis (ALS). It remains unclear whether this association is causal. The autho...

    Authors: Kailin Xia, Linjing Zhang, Lu Tang, Tao Huang and Dongsheng Fan
    Citation: Orphanet Journal of Rare Diseases 2022 17:56
    Content type: Research Published on:

  34. The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly receive a genetic diagnosis. Nonetheless, the awareness of the c...

    Authors: Elisabetta Indelicato, Michael Zech, Matthias Amprosi and Sylvia Boesch
    Citation: Orphanet Journal of Rare Diseases 2022 17:55
    Content type: Research Published on:

  35. This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician...

    Authors: Orlando Buendia, Sneha Shankar, Hadley Mahon, Connor Toal, Lara Menzies, Pradeep Ravichandran, Jane Roper, Jag Takhar, Rudy Benfredj and Will Evans
    Citation: Orphanet Journal of Rare Diseases 2022 17:54
    Content type: Research Published on:

  36. Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this t...

    Authors: Aldona Pietrzak, Bartlomiej Wawrzycki, Matthias Schmuth and Katarzyna Wertheim-Tysarowska
    Citation: Orphanet Journal of Rare Diseases 2022 17:53
    Content type: Research Published on:

  37. Myasthenia gravis (MG) is an autoimmune disorder that frequently affects females at reproductive age. Herein, we aimed to assess the associations of clinical factors with pregnancy-related outcome in MG.

    Authors: Manqiqige Su, Xiaoqing Liu, Liang Wang, Jie Song, Zhirui Zhou, Sushan Luo and Chongbo Zhao
    Citation: Orphanet Journal of Rare Diseases 2022 17:52
    Content type: Review Published on:

  38. Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better ...

    Authors: Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis…
    Citation: Orphanet Journal of Rare Diseases 2022 17:51
    Content type: Research Published on:

  39. DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair. There are no standardized diagnostic assays for the investigation...

    Authors: Ola Hammarsten, Anna Lyytikäinen, Sofia Thunström, Torben Ek, Anders Fasth, Olov Ekwall, Sara Cajander, Emilie Wahren Borgström, C. I. Edvard Smith and Pegah Johansson
    Citation: Orphanet Journal of Rare Diseases 2022 17:50
    Content type: Research Published on:

  40. Improving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that patients receive. We recently developed a taxonomy of different ways of co...

    Authors: Holly Walton, Amy Simpson, Angus I. G. Ramsay, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris and Naomi J. Fulop
    Citation: Orphanet Journal of Rare Diseases 2022 17:49
    Content type: Research Published on:

  41. Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death. Recently, new treatment modalities, including gene therap...

    Authors: Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin…
    Citation: Orphanet Journal of Rare Diseases 2022 17:48
    Content type: Research Published on:

  42. In individuals suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis often extends over many years. Factors contributing to delayed diagnosis include health care profes...

    Authors: Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Heuschmann, Christian Krauth, Monika Bullinger, Alexandra Berger, Mark Berneburg, Lilly Brandstetter, Anna Deibele, Jan Dieris-Hirche, Holm Graessner, Harald Gündel, Stephan Herpertz…
    Citation: Orphanet Journal of Rare Diseases 2022 17:47
    Content type: Research Published on:

  43. The international recommendations tend to avoid physical activity (PA) for patients with Marfan syndrome (MFS). However, exceptions have recently been made in the most recent recommendations for these patients...

    Authors: Steeve Jouini, Olivier Milleron, Ludivine Eliahou, Guillaume Jondeau and Damien Vitiello
    Citation: Orphanet Journal of Rare Diseases 2022 17:46
    Content type: Review Published on:

  44. To evaluate whether the quantification of fetal hemoglobin (Hb) Bart’s is useful for differentiation of α-thalassemia syndromes in the fetus and to characterize the fetal anemia associated with fetal α-hemoglo...

    Authors: Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Kanokwan Sanchaisuriya, Goonnapa Fucharoen and Supan Fucharoen
    Citation: Orphanet Journal of Rare Diseases 2022 17:45
    Content type: Research Published on:

  45. The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors. Given the wide range of NF symptoms and medical specialties involved ...

    Authors: Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin and Justin T. Jordan
    Citation: Orphanet Journal of Rare Diseases 2022 17:44
    Content type: Research Published on:

  46. Rare diseases (RD) are conditions that affect a small number of people and hence do not get the focus on government health priorities in a resource-constrained setting such as India. Therefore, it is essential...

    Authors: Mohua Chakraborty Choudhury and Pragya Chaube
    Citation: Orphanet Journal of Rare Diseases 2022 17:43
    Content type: Position statement Published on:

  47. Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatme...

    Authors: Derralynn A. Hughes, Patrício Aguiar, Olivier Lidove, Kathleen Nicholls, Albina Nowak, Mark Thomas, Roser Torra, Bojan Vujkovac, Michael L. West and Sandro Feriozzi
    Citation: Orphanet Journal of Rare Diseases 2022 17:42
    Content type: Research Published on:

  48. Reproductive planning is an emerging concern for women with inherited metabolic disease (IMD). Anticipatory guidance on contraception is necessary to prevent unintended pregnancies in this population. Few reso...

    Authors: Jessica I. Gold, Nina B. Gold, Diva D. DeLeon and Rebecca Ganetzky
    Citation: Orphanet Journal of Rare Diseases 2022 17:41
    Content type: Research Published on:

  49. There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Ne...

    Authors: G. Hamoy-Jimenez, H. A. Elahmar, M. Mendoza, R. H. Kim, V. Bril and C. Barnett
    Citation: Orphanet Journal of Rare Diseases 2022 17:40
    Content type: Research Published on:

  50. Non-Langerhans cell histiocytosis, including Erdheim–Chester disease (ECD), Rosai–Dorfman disease (RDD), indeterminate cell histiocytosis (ICH), and unclassified histiocytosis, is a rare disorder lacking a sta...

    Authors: Ting Liu, Hua-cong Cai, Hao Cai, Miao Chen, Wei Zhang, Jian Li, Dao-bin Zhou and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2022 17:39
    Content type: Research Published on:
Submit manuscript

Follow

  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172