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  1. Multiple sclerosis (MS) may impact quality of life, careers and family plans of the affected individuals. The current treatments with disease modifying therapies aim to prevent people with MS (pwMS) from disab...

    Authors: Cecilia Rajda, Csilla Rózsa, Andrea Mike, Gábor Lovas, Zsolt Mezei, Gábor Jakab, Péter Ács, Gábor Rum, Magdolna Simó, Zita Jobbágy, Zita Bíró, Anita Trauninger, Piroska Imre, Klotild Mátyás, István Deme, Zsolt Illés…
    Citation: Orphanet Journal of Rare Diseases 2023 18:183
  2. Signs and symptoms of Bardet–Biedl syndrome (BBS) occur during early childhood, progress over time, and place substantial, multifaceted burden on patients and their caregivers. Hyperphagia may be a contributin...

    Authors: Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy and Andrea M. Haqq
    Citation: Orphanet Journal of Rare Diseases 2023 18:182
  3. Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. Given the early onset of BBS symptoms in childhood and multifaceted complications, this study aime...

    Authors: Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy and Andrea M. Haqq
    Citation: Orphanet Journal of Rare Diseases 2023 18:181
  4. Sporadic lymphangioleiomyomatosis (S-LAM) is a rare low-grade neoplasm of young women characterized by multiple pulmonary cysts leading to progressive dyspnea and recurrent spontaneous pneumothorax (SP). The d...

    Authors: Audrey Suter, Marie-Eve Müller, Cécile Daccord, Patrick Taffé and Romain Lazor
    Citation: Orphanet Journal of Rare Diseases 2023 18:180
  5. The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes. We aimed to determine out...

    Authors: Mehmet Gündüz, Yasemin Yüksel Güdek and Çiğdem Seher Kasapkara
    Citation: Orphanet Journal of Rare Diseases 2023 18:179
  6. Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. ...

    Authors: Paula I. Wilke, Daniel Biermann, Maria Grafmann, Rainer Kozlik-Feldmann, Dzhoy Papingi, Jörg S. Sachweh, Fridrike Stute and Jakob Olfe
    Citation: Orphanet Journal of Rare Diseases 2023 18:178
  7. Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-...

    Authors: Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi…
    Citation: Orphanet Journal of Rare Diseases 2023 18:177

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:190

  8. In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded usi...

    Authors: Thibaut Pichon, Claude Messiaen, Louis Soussand, Céline Angin, Arnaud Sandrin, Nabila Elarouci and Anne-Sophie Jannot
    Citation: Orphanet Journal of Rare Diseases 2023 18:176
  9. The risk of neuropsychological disorders appears to be high in hyperphenylalaninemia (HPA). The hypothesis of executive function impairment is prominent in accounting for the neuropsychological phenotype in ph...

    Authors: Laetitia Paermentier, Aline Cano, Brigitte Chabrol and Arnaud Roy
    Citation: Orphanet Journal of Rare Diseases 2023 18:175
  10. At present, the etiology of moyamoya disease is not clear, and it is necessary to explore the mechanism of its occurrence and development. Although some bulk sequencing data have previously revealed transcript...

    Authors: Qikai Tang, Wenjun Li, Jie Huang, Yuting Wu, Chenfeng Ma, Yiming Tu, Qianmiao Zhu, Jiacheng Lu, Jiaheng Xie, Yu Liu, Xiaoman Mao and Wei Wu
    Citation: Orphanet Journal of Rare Diseases 2023 18:174
  11. While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease. Therefore, the purpose of this study ...

    Authors: Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli and Engin Beydogan
    Citation: Orphanet Journal of Rare Diseases 2023 18:173
  12. Paroxysmal nocturnal hemoglobinuria (PNH) results from a mutation in the phosphatidylinositol glycan class-A gene which causes uncontrolled complement activation with resultant intravascular hemolysis and its ...

    Authors: Sugat Adhikari, Surendra Sapkota, Suraj Shrestha, Kshitiz Karki and Anjan Shrestha
    Citation: Orphanet Journal of Rare Diseases 2023 18:172
  13. Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely reduced/absent platelet aggregation in response to multiple physiological agonists. The severity of bleeding in GT varies ...

    Authors: Mathieu Fiore, Janine-Sophie Giraudet, Marie-Christine Alessi, Céline Falaise, Dominique Desprez, Roseline d’Oiron, Sophie Voisin, Marie-Françoise Hurtaud, Hélène Boutroux, Paul Saultier, Cécile Lavenu-Bombled, Gilles Bagou, Xavier Dubucs, Anthony Chauvin, Christophe Leroy, Francine Meckert…
    Citation: Orphanet Journal of Rare Diseases 2023 18:171
  14. Authors: Mohd Salman, Anshuman Verma, Sunita Chaurasia, Deeksha Prasad, Chitra Kannabiran, Vivek Singh and Muralidhar Ramappa
    Citation: Orphanet Journal of Rare Diseases 2023 18:170

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:361

  15. Myasthenia gravis (MG) is a rare, chronic, debilitating, unpredictable, and potentially life-threatening neuromuscular disease. There is a lack of real-world data on disease management that could be used to fu...

    Authors: Milada Mahic, Ali Bozorg, Jonathan DeCourcy, Keisha Golden, Gregor Gibson, Christian Taylor and Anna Scowcroft
    Citation: Orphanet Journal of Rare Diseases 2023 18:169
  16. Wilson's disease (WD) is an autosomal recessive genetic disorder due to a mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and accumulation in various tissues. Lifelong decoppering treat...

    Authors: Kevin Chevalier, Djamila Rahli, Louise de Veyrac, Jessica Guillaume, Michaël Alexandre Obadia and Aurélia Poujois
    Citation: Orphanet Journal of Rare Diseases 2023 18:168
  17. The familial chylomicronemia syndrome (FCS) is an ultra rare disease caused by lipoprotein lipase (LPL) deficiency associated with potentially lethal acute pancreatitis risk. Thrombocytopenia (platelet count <...

    Authors: Miriam Larouche, Diane Brisson, Marie-Claude Morissette and Daniel Gaudet
    Citation: Orphanet Journal of Rare Diseases 2023 18:167
  18. Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability,...

    Authors: Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen…
    Citation: Orphanet Journal of Rare Diseases 2023 18:166
  19. Pituitary abscess (PA) is a rare condition and not well understood. We aimed to describe a case and perform a comprehensive systematic review to explore presenting symptoms, radiological findings, endocrine ab...

    Authors: Felicity Stringer, Yi Chao Foong, Alanna Tan, Sarah Hayman, Jeffrey D. Zajac, Mathis Grossmann, Justin Ng Yau Zane, Jasmine Zhu and Sujith Ayyappan
    Citation: Orphanet Journal of Rare Diseases 2023 18:165
  20. Cardiovascular events such as myocardial infarction and stroke are life-threatening complications associated with Neurofibromatosis type 1 (NF1). As previous studies observed an association between cardiovascu...

    Authors: Ana M. Cieza Rivera, Tania Fernández-Villa, Vicente Martín and Isis Atallah
    Citation: Orphanet Journal of Rare Diseases 2023 18:164
  21. Rare diseases affect more than 30 million Americans. The passage of the Orphan Drug Act (ODA) in the United States in 1983 represented a launching point for a rare disease drug development revolution for these...

    Authors: Lewis J. Fermaglich and Kathleen L. Miller
    Citation: Orphanet Journal of Rare Diseases 2023 18:163
  22. The aim of this letter to the editor is to summarize the results from three clinical trial programs evaluating delayed-release cysteamine bitartrate (DR-CYS), which demonstrated the long-term clinical benefits...

    Authors: Craig B. Langman
    Citation: Orphanet Journal of Rare Diseases 2023 18:162
  23. The notion of “burden” has taken a key place in the evaluation of care, particularly in the case of rare diseases. The aim of this study was to evaluate the psychometric properties of the burden of neurofibrom...

    Authors: Reza Jahanshahi, Zahra Yasaghi, Fatemeh Mirzaei, Shohreh Ghasemi, Akram Sanagoo, Leila Jouybari and Samira Foji
    Citation: Orphanet Journal of Rare Diseases 2023 18:161
  24. CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteoscleros...

    Authors: Jarosław Dulski, Josiane Souza, Mara Lúcia Santos and Zbigniew K. Wszolek
    Citation: Orphanet Journal of Rare Diseases 2023 18:160
  25. The economic burden of rare diseases on health systems is still not widely measured, with the generation of accurate information about the costs with medical care for subjects with rare diseases being crucial ...

    Authors: Nayê Balzan Schneider, Erica Caetano Roos, Ana Lúcia Portella Staub, Isabela Possebon Bevilacqua, Ana Carolina de Almeida, Tamiê de Camargo Martins, Natalia Bergamelli Ramos, Priscilla Loze, Jonas Alex Morales Saute, Ana Paula Beck da Silva Etges and Carisi Anne Polanczyk
    Citation: Orphanet Journal of Rare Diseases 2023 18:159
  26. Wilson disease (WD) is a genetic disorder of copper metabolism that leads to copper accumulation in various organs, primarily the liver and brain, resulting in heterogenous hepatic, neurologic, and psychiatric...

    Authors: Karen M Bailey, Navdeep Sahota, Uyen To and Peter Hedera
    Citation: Orphanet Journal of Rare Diseases 2023 18:158
  27. Mitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey, and factors that affect it. Our goals are to report the results of th...

    Authors: John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales and Michio Hirano
    Citation: Orphanet Journal of Rare Diseases 2023 18:157

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:194

  28. Angelman syndrome (AS) is a rare, heterogenous neurogenetic condition, which significantly impacts the lives of people with AS and their families. Valid and reliable measures reporting key symptoms and functio...

    Authors: Siobhan Connor-Ahmad, Jorrit Tjeertes, Michael Chladek, Louise Newton, Tara Symonds, Susanne Clinch, Brenda Vincenzi and Fiona McDougall
    Citation: Orphanet Journal of Rare Diseases 2023 18:156
  29. The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated w...

    Authors: Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson and Rani H. Singh
    Citation: Orphanet Journal of Rare Diseases 2023 18:155
  30. During the COVID-19 pandemic people affected by rare diseases (RD) or caregiver of affected children have faced additional challenges. The pandemic has affected physical and mental health, social life and has ...

    Authors: David Zybarth, Maja Brandt, Christine Mundlos and Laura Inhestern
    Citation: Orphanet Journal of Rare Diseases 2023 18:154
  31. Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is an autoinflammatory disorder that primarily affects young children, and typically gives rise to fever episodes that re...

    Authors: Karin Rydenman, Carina Sparud-Lundin, Anna Karlsson-Bengtsson, Stefan Berg, Anders Fasth and Per Wekell
    Citation: Orphanet Journal of Rare Diseases 2023 18:153
  32. Allgrove disease is a rare genetic syndrome characterized by adrenal insufficiency, alacrimia, achalasia and complex neurological involvement. Allgrove disease is due to recessive mutations in the AAAS gene, whic...

    Authors: Giacomo Bitetto, Gianluca Lopez, Dario Ronchi, Alessandra Pittaro, Valentina Melzi, Erika Peverelli, Fulvia Milena Cribiù, Giacomo P. Comi, Giovanna Mantovani and Alessio Di Fonzo
    Citation: Orphanet Journal of Rare Diseases 2023 18:152
  33. Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in...

    Authors: Andrea Pession, Maja Di Rocco, Francesco Venturelli, Barbara Tappino, William Morello, Nicola Santoro, Paola Giordano, Beatrice Filippini, Simona Rinieri, Giovanna Russo, Katia Girardi, Antonio Ruggiero, Eulalia Galea, Roberto Antonucci, Nicola Tovaglieri, Fulvio Porta…
    Citation: Orphanet Journal of Rare Diseases 2023 18:151
  34. Authors: Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi and Guoli Tian
    Citation: Orphanet Journal of Rare Diseases 2023 18:150

    The original article was published in Orphanet Journal of Rare Diseases 2023 18:102

  35. We refine the clinical spectrum of FOXG1 syndrome and expand genotype–phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry.

    Authors: Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson and Heather Olson
    Citation: Orphanet Journal of Rare Diseases 2023 18:149
  36. Population-specific variation database of inborn errors of metabolism (IEMs) is essential for precise genetic diagnosis and disease prevention. Here we presented a systematic review of clinically relevant vari...

    Authors: Yongchao Guo, Jianhui Jiang and Zhongyao Xu
    Citation: Orphanet Journal of Rare Diseases 2023 18:148
  37. Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia with associated primary immunodeficiency. The aim of this cross-sectional study was to examine oral health indicators in individuals with CHH.

    Authors: Heidi Arponen, Svetlana Vakkilainen, Jaana Rautava and Outi Mäkitie
    Citation: Orphanet Journal of Rare Diseases 2023 18:147
  38. Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psy...

    Authors: Eva Diehl-Wiesenecker, Sabine Blaschke, Nils Wohmann, Ilja Kubisch, Thomas Stauch, Mona Mainert, Franziska Helm, Sabine von Wegerer, David Pittrow, Jorge Frank, Ulrich Stölzel and Rajan Somasundaram
    Citation: Orphanet Journal of Rare Diseases 2023 18:146
  39. Rare diseases (RD) are severe and debilitating conditions. They are one of the leading causes of childhood mortality globally. In India, RDs have not been considered in most healthcare programs which usually c...

    Authors: Pragya Chaube, Arun K. Singh and Mohua Chakraborty Choudhury
    Citation: Orphanet Journal of Rare Diseases 2023 18:145
  40. The Mechanism of Coordinated Access to Orphan Medicinal Products (MoCA) was established in 2013 with the intention of developing a coordinated mechanism between volunteering EU stakeholders and developers of O...

    Authors: Maria Cavaller-Bellaubi, Wills Hughes-Wilson, Šárka Kubinová, Marc Van de Casteele, Evert Jan Van Lente, Emanuele Degortes, Johan Pontén, Hans-Georg Eichler, Yann Le Cam, Simone Boselli and Anna Bucsics
    Citation: Orphanet Journal of Rare Diseases 2023 18:144
  41. Rare diseases (RDs) may impose a considerable financial burden on patients and their families. Public acceptance is essential to ensure sustainable public systems supporting RDs, especially in countries with u...

    Authors: Haruka Nakada, Saori Watanabe, Kyoko Takashima, Shohei Suzuki, Yuki Kawamura, Yutori Takai, Kenji Matsui and Keiichiro Yamamoto
    Citation: Orphanet Journal of Rare Diseases 2023 18:143
  42. Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe microcepha...

    Authors: Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, François Maillot and François Labarthe
    Citation: Orphanet Journal of Rare Diseases 2023 18:142
  43. Rare diseases present a challenge to guideline implementation due to a low prevalence in the general population and the unfamiliarity of healthcare professionals. Existing literature in more common diseases re...

    Authors: Matthew Gittus, Jiehan Chong, Anthea Sutton, Albert C. M. Ong and James Fotheringham
    Citation: Orphanet Journal of Rare Diseases 2023 18:140
  44. The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia Natural History Study) includes clinical data from a...

    Authors: Nickolas J. Nahm, W. G. Stuart Mackenzie, William G. Mackenzie, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria Elena Serna, Cory J. Smid, Julie Hoover-Fong and Michael B. Bober
    Citation: Orphanet Journal of Rare Diseases 2023 18:139
  45. X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use. Und...

    Authors: Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller and Alan H. Beggs
    Citation: Orphanet Journal of Rare Diseases 2023 18:138
  46. Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly dependent on polymerase chain reaction (PCR)-based directed mutation detection combined with l...

    Authors: Dongjia Chen, Yan Xu, Yu Fu, Yali Wang, Yuliang Liu, Chenhui Ding, Bing Cai, Jiafu Pan, Jing Wang, Rong Li, Jing Guo, Han Zhang, Yanhong Zeng, Xiaoting Shen and Canquan Zhou
    Citation: Orphanet Journal of Rare Diseases 2023 18:137
  47. Children with medical complexity (CMC) require long-term care accompanied by different health- and social care professionals. Depending on the severity of the chronic condition, caregivers spend a lot of time ...

    Authors: Jana Willems, Isabella Bablok, Erik Farin-Glattacker and Thorsten Langer
    Citation: Orphanet Journal of Rare Diseases 2023 18:136
  48. CNS actinomycosis is a rare chronic suppurative infection with non-specific clinical features. Diagnosis is difficult due to its similarity to malignancy, nocardiosis and other granulomatous diseases. This sys...

    Authors: Durga Shankar Meena, Deepak Kumar, Mukesh Sharma, Manika Malik, Akshatha Ravindra, N. Santhanam, Gopal Krishana Bohra and Mahendra Kumar Garg
    Citation: Orphanet Journal of Rare Diseases 2023 18:133