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  1. 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
    Content type: Position statement Published on:

  2. 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
    Content type: Research Published on:

  3. 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
    Content type: Research Published on:

  4. 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
    Content type: Position statement Published on:

  5. 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
    Content type: Research Published on:

  6. 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
    Content type: Research Published on:

  7. 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
    Content type: Research Published on:

  8. 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
    Content type: Letter to the Editor Published on:

  9. 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
    Content type: Research Published on:

  10. 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
    Content type: Review Published on:

  11. 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
    Content type: Research Published on:

  12. 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
    Content type: Research Published on:

  13. 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
    Content type: Research Published on:

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

  14. 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
    Content type: Research Published on:

  15. 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
    Content type: Research Published on:

  16. 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
    Content type: Research Published on:

  17. 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
    Content type: Research Published on:

  18. 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
    Content type: Research Published on:

  19. 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
    Content type: Research Published on:

  20. 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
    Content type: Correction Published on:

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

  21. 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
    Content type: Research Published on:

  22. 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
    Content type: Review Published on:

  23. 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
    Content type: Research Published on:

  24. 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
    Content type: Research Published on:

  25. 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
    Content type: Position statement Published on:

  26. 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
    Content type: Research Published on:

  27. 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
    Content type: Research Published on:

  28. 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
    Content type: Research Published on:

  30. 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
    Content type: Research Published on:

  31. 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
    Content type: Research Published on:

  32. 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
    Content type: Research Published on:

  33. 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
    Content type: Research Published on:

  34. 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
    Content type: Research Published on:

  35. Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Tw...

    Authors: Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo and Annet M. Bosch
    Citation: Orphanet Journal of Rare Diseases 2023 18:135
    Content type: Research Published on:

  36. Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, ...

    Authors: Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld and Lidewij Henneman
    Citation: Orphanet Journal of Rare Diseases 2023 18:134
    Content type: Research Published on:

  37. 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
    Content type: Review Published on:

  39. Glycogen storage disease type VI (GSD VI) is a rare disease in which liver glycogen metabolism is impaired by mutations in the glycogen phosphorylase L (PYGL). This study aimed to examine the clinical features, g...

    Authors: Jong Woo Hahn, Heerah Lee, Moon Woo Seong, Gyeong Hoon Kang, Jin Soo Moon and Jae Sung Ko
    Citation: Orphanet Journal of Rare Diseases 2023 18:132
    Content type: Research Published on:

  40. Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes...

    Authors: Yin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, Laura A. Jenny, Rin Khang, Go Hun Seo, Hane Lee, Kuan-Jen Chen, Wei-Chi Wu, Meng-Chang Hsiao and Nan-Kai Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:131
    Content type: Research Published on:

  41. Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease caused by variants in the SLC34A2 gene encoding the sodium-dependent phosphate transport protein 2B, NaPi-2b. PAM is characterize...

    Authors: Åsa Lina M. Jönsson, Ole Hilberg, Ulf Simonsen, Jane Hvarregaard Christensen and Elisabeth Bendstrup
    Citation: Orphanet Journal of Rare Diseases 2023 18:130
    Content type: Review Published on:

  42. Mitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on healthcare resource utilization associated with mitochondrial diseases and the clinica...

    Authors: Sameen Haque, Karen Crawley, Rupendra Shrestha, Deborah Schofield and Carolyn M. Sue
    Citation: Orphanet Journal of Rare Diseases 2023 18:129
    Content type: Research Published on:

  43. Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approximately 5% of PKU patients remained undiagnosed after Sanger sequencing and multiplex ligati...

    Authors: Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao and Xu Ma
    Citation: Orphanet Journal of Rare Diseases 2023 18:128
    Content type: Research Published on:

  44. Metreleptin, a recombinant analog of human leptin, is an approved therapy, adjunct to diet, to treat the metabolic complications of leptin deficiency in patients with lipodystrophy – a group of rare diseases c...

    Authors: Morey W Haymond, David Araújo-Vilar, John Balser, James H Lewis, Ruth Louzado, Carla Musso, Julia von Schnurbein and Martin Wabitsch
    Citation: Orphanet Journal of Rare Diseases 2023 18:127
    Content type: Research Published on:

  45. X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.

    Authors: Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao and Wenjuan Qiu
    Citation: Orphanet Journal of Rare Diseases 2023 18:126
    Content type: Research Published on:

  47. Pulmonary arteriovenous malformations (PAVMs), particularly where feeding artery/arteries to PAVMs ≥ 3 mm can be treated with embolization. The treatment for hypoxemia resulting from multiple small or diffuse ...

    Authors: Jinrong Liu, Xiaomin Duan, Jie Yin, Haiming Yang, Ruxuan He and Shunying Zhao
    Citation: Orphanet Journal of Rare Diseases 2023 18:124
    Content type: Letter to the Editor Published on:

  48. Osteogenesis imperfecta (OI) is a group of rare inheritable disorders of connective tissue. The cardinal manifestations of OI are low bone mass and reduced bone mineral strength, leading to increased bone frag...

    Authors: Susanne Wehrli, Marianne Rohrbach and Markus Andreas Landolt
    Citation: Orphanet Journal of Rare Diseases 2023 18:123
    Content type: Review Published on:

  49. Wilson disease (WD) is a rare, hereditary disorder of copper metabolism. Due to its variable symptoms and manifestations, diagnosis remains challenging. Affected patients must obtain lifelong medical treatment...

    Authors: Sebastian Zimny, Hélène Bourhis, Sabine Weber, Florian Paul Reiter, Simon Hohenester, Eduard Kraft, Isabelle Mohr, Uta Merle, Karl Heinz Weiss and Gerald Denk
    Citation: Orphanet Journal of Rare Diseases 2023 18:122
    Content type: Research Published on:

  50. Patients with vascular anomalies (VAs) who receive oral sirolimus may be at high risk of infectious complications. Antibiotic prophylaxis with trimethoprim-sulfamethoxazole (TMP-SMZ) has been advocated. Howeve...

    Authors: Tong Qiu, Yanan Li, Xue Gong, Jiangyuan Zhou, Kaiying Yang, Xuepeng Zhang, Zixin Zhang, Yuru Lan, Fan Hu, Qiang Peng, Yongbo Zhang, Feiteng Kong, Siyuan Chen and Yi Ji
    Citation: Orphanet Journal of Rare Diseases 2023 18:121
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172