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  1. Mitochondrial disease is a degenerative, progressive, heterogeneous group of genetic disorders affecting children and adults. Mitochondrial disease is associated with morbidity and mortality, with predominantl...

    Authors: Enrico Bertini, Emily Gregg, Chris Bartlett, Vij Senthilnathan, Mick Arber, Deborah Watkins, Sara Graziadio and Ioannis Tomazos
    Citation: Orphanet Journal of Rare Diseases 2023 18:320
    Content type: Review Published on:

  2. In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6–70.5 years) improved endurance, muscle strength and function. Data on long-term effects...

    Authors: Gamida Ismailova, Margreet A. E. M. Wagenmakers, Esther Brusse, Ans T. van der Ploeg, Marein M. Favejee, Nadine A. M. E. van der Beek and Linda E. M. van den Berg
    Citation: Orphanet Journal of Rare Diseases 2023 18:319
    Content type: Research Published on:

  3. Spinocerebellar ataxia type 3 (SCA3) is an inherited, autosomal, and rare neurodegenerative disease. Serum/plasma biomarkers or functional magnetic resonance imaging used to assess progression, except for neur...

    Authors: Chungmin Chiu, Wenling Cheng, Yongshiou Lin, Tatsung Lin, Huiju Chang, Yujun Chang, Chiaju Lee, Henhong Chang and Chinsan Liu
    Citation: Orphanet Journal of Rare Diseases 2023 18:317
    Content type: Research Published on:

  4. Familial chylomicronemia syndrome (FCS) is a rare, hereditary, metabolic disorder. FCS causes high levels of triglycerides in the blood, which can lead to abdominal pain, xanthomas, and acute pancreatitis (AP)...

    Authors: Kate Williams, Georgina Tickler, Pedro Valdivielso, Jordi Alonso, Montserrat Vera-Llonch, Laia Cubells and Sarah Acaster
    Citation: Orphanet Journal of Rare Diseases 2023 18:316
    Content type: Research Published on:

  5. Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly establi...

    Authors: Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain and Amets Sáenz
    Citation: Orphanet Journal of Rare Diseases 2023 18:315
    Content type: Research Published on:

  6. The goal of this study was to evaluate macular microvascular changes in patients with Fabry disease (FD) using optical coherence tomography angiography (OCTA) and to explore their correlation with laboratory a...

    Authors: Migle Lindziute, Jessica Kaufeld, Karsten Hufendiek, Ingo Volkmann, Dorothee Brockmann, Sami Hosari, Bettina Hohberger, Mardin Christian, Carsten Framme, Tode Jan and Katerina Hufendiek
    Citation: Orphanet Journal of Rare Diseases 2023 18:314
    Content type: Research Published on:

  7. Pexidartinib is a colony-stimulating factor-1 receptor inhibitor approved in the United States for treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbi...

    Authors: Colleen McCabe, Hillary Wright, Kathleen Polson and Andrew J. Wagner
    Citation: Orphanet Journal of Rare Diseases 2023 18:313
    Content type: Position statement Published on:

  8. Severe primary insulin-like growth factor-I (IGF-I) deficiency (SPIGFD) is a rare growth disorder characterized by short stature (standard deviation score [SDS] ≤ 3.0), low circulating concentrations of IGF-I ...

    Authors: Philippe F. Backeljauw, Mary Andrews, Peter Bang, Leo Dalle Molle, Cheri L. Deal, Jamie Harvey, Shirley Langham, Elżbieta Petriczko, Michel Polak, Helen L. Storr and Mehul T. Dattani
    Citation: Orphanet Journal of Rare Diseases 2023 18:312
    Content type: Review Published on:

  9. Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression ...

    Authors: Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko and Ji Hoon Phi
    Citation: Orphanet Journal of Rare Diseases 2023 18:311
    Content type: Research Published on:

  10. Following the reverse genetics strategy developed in the 1980s to pioneer the identification of disease genes, genome(s) sequencing has opened the era of genomics medicine. The human genome project has led to ...

    Authors: Alessandra Ferlini, Edith Sky Gross and Nicolas Garnier
    Citation: Orphanet Journal of Rare Diseases 2023 18:310
    Content type: Letter to the Editor Published on:

  11. Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide. Its classic motor symptoms may be preceded by non-motor symptoms (NMS). Population studies have identified GBA variants as r...

    Authors: Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani and Ida Vanessa Doederlein Schwartz
    Citation: Orphanet Journal of Rare Diseases 2023 18:309
    Content type: Research Published on:

  12. Intestinal lymphangiectasia (IL) is a rare protein-losing enteropathy caused by disorders of the intestinal lymphatics. There are only a few case reports and case series concerning the VCE (video capsule endos...

    Authors: Lin Lin, Kuiliang Liu, Hong Liu, Jianfeng Xin, Yuguang Sun, Song Xia, Wenbin Shen and Jing Wu
    Citation: Orphanet Journal of Rare Diseases 2023 18:308
    Content type: Research Published on:

  13. Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by pathogenic variants in more than 400 genes. The impl...

    Authors: Kristina Grigalionienė, Birutė Burnytė, Laima Ambrozaitytė and Algirdas Utkus
    Citation: Orphanet Journal of Rare Diseases 2023 18:307
    Content type: Research Published on:

  14. cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical chara...

    Authors: Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu and Lianshu Han
    Citation: Orphanet Journal of Rare Diseases 2023 18:306
    Content type: Research Published on:

  16. 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
    Content type: Research Published on:

  17. 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
    Content type: Review Published on:

  18. 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
    Content type: Letter to the Editor Published on:

  19. 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
    Content type: Research Published on:

  20. 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
    Content type: Research Published on:

  23. 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
    Content type: Research Published on:

  24. 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
    Content type: Review Published on:

  25. 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
    Content type: Research Published on:

  26. 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
    Content type: Research Published on:

  27. 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
    Content type: Research Published on:

  29. 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
    Content type: Review Published on:

  30. 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
    Content type: Review Published on:

  31. 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
    Content type: Research Published on:

  32. 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
    Content type: Review Published on:

  33. 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
    Content type: Research Published on:

  34. 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
    Content type: Research Published on:

  35. 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
    Content type: Letter to the Editor Published on:

  36. 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
    Content type: Research Published on:

  37. 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: Lucia Masárová, Roman Panovský, Martin Pešl, Mary Luz Mojica-Pisciotti, Tomáš Holeček, Vladimír Kincl, Lenka Juříková, Jan Máchal, Lukáš Opatřil and Věra Feitová
    Citation: Orphanet Journal of Rare Diseases 2023 18:283
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:331

  38. 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
    Content type: Research Published on:

  39. 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
    Content type: Review Published on:

  40. 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
    Content type: Research Published on:

  41. 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
    Content type: Research Published on:

  42. 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
    Content type: Research Published on:

  43. 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
    Content type: Research Published on:

  44. 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
    Content type: Research Published on:

  45. 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
    Content type: Research Published on:

  46. 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
    Content type: Research Published on:

  47. 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
    Content type: Research Published on:

  48. 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
    Content type: Position statement Published on:

  49. 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
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172