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  1. Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in ...

    Authors: Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas and Mercedes Gil-Campos
    Citation: Orphanet Journal of Rare Diseases 2022 17:340
    Content type: Research Published on:

  2. Hereditary transthyretin amyloidosis (hATTR) is a progressive and fatal disease with heterogenous clinical presentations, limited diagnosis and poor prognosis. This retrospective analysis study aimed to report...

    Authors: Xinyue He, Zhuang Tian, Hongzhi Guan and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:337
    Content type: Research Published on:

  3. Natural history studies are increasingly recognized as having an important role in drug development for rare diseases. A phase 3, observational, retrospective, and non-interventional study was designed to esta...

    Authors: Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr and Hilary J. Vernon
    Citation: Orphanet Journal of Rare Diseases 2022 17:336
    Content type: Research Published on:

  5. Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic involvement. However, their symptom burden and health-related quality of li...

    Authors: Annie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, Wilfred Hing Sang Wong, Winnie Wan Yee Tso and Cheuk Wing Fung
    Citation: Orphanet Journal of Rare Diseases 2022 17:334
    Content type: Research Published on:

  6. Against the backdrop of the European Directive on patients’ rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working to...

    Authors: O. Spivack and L. Gaillard
    Citation: Orphanet Journal of Rare Diseases 2022 17:333
    Content type: Research Published on:

  7. Major challenges to health care access include low health insurance literacy, prohibitive costs, and insurance barriers. Niemann–Pick disease (NPD), comprising acid sphingomyelinase deficiency (ASMD) and Niema...

    Authors: George A. Diaz, Joslyn Crowe and Justin Hopkin
    Citation: Orphanet Journal of Rare Diseases 2022 17:332
    Content type: Research Published on:

  8. Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficien...

    Authors: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien…
    Citation: Orphanet Journal of Rare Diseases 2022 17:331
    Content type: Research Published on:

  9. cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investig...

    Authors: Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li…
    Citation: Orphanet Journal of Rare Diseases 2022 17:330
    Content type: Research Published on:

  10. Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients an...

    Authors: Caroline Sevin, Magalie Barth, Alexandra Wilds, Abena Afriyie, Markus Walz, Annamarie Dillon, Kenneth Howie and Francis Pang
    Citation: Orphanet Journal of Rare Diseases 2022 17:329
    Content type: Research Published on:

  11. Parents of children with a rare progressive life-limiting illness are at risk for parental posttraumatic stress disorder (PTSD). Studies on the treatment of parental PTSD with eye movement and desensitization ...

    Authors: T. Conijn, C. De Roos, H. J. I. Vreugdenhil, E. M. Van Dijk-Lokkart, F. A. Wijburg and L. Haverman
    Citation: Orphanet Journal of Rare Diseases 2022 17:328
    Content type: Research Published on:

  12. Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulin...

    Authors: Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser and Manisha Balwani
    Citation: Orphanet Journal of Rare Diseases 2022 17:327
    Content type: Research Published on:

  13. Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the f...

    Authors: Meiling Tang, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang, Zhaoqing Yin, Wenhao Zhou and Xinran Dong
    Citation: Orphanet Journal of Rare Diseases 2022 17:326
    Content type: Research Published on:

  14. Split-hand/ foot malformation with long bone deficiency 3 (SHFLD3) is an extremely rare condition associated with duplications located on 17p13.3, which invariably encompasses the BHLHA9 gene. The disease inherit...

    Authors: Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Jolanta Wierzba and Aleksander Jamsheer
    Citation: Orphanet Journal of Rare Diseases 2022 17:325
    Content type: Research Published on:

  15. Prader–Willi syndrome (PWS) is a rare neurodevelopmental disorder based on a loss of paternally expressed genes in chromosome segment 15q11-13. Behavioral traits such as temper outbursts, stereotypic, and ritu...

    Authors: Maximilian Deest, Jelte Wieting, Maximilian Michael Jakob, Stephanie Deest-Gaubatz, Adrian Groh, Johanna Seifert, Sermin Toto, Stefan Bleich, Helge Frieling and Christian K. Eberlein
    Citation: Orphanet Journal of Rare Diseases 2022 17:324
    Content type: Research Published on:

  16. Rare disease registries increase research accessibility for patients, while providing clinicians/investigators with a coherent data ecosystem necessary to boost research and patient care. The IRD-PT registry i...

    Authors: João Pedro Marques, Sara Vaz-Pereira, José Costa, Ana Marta, José Henriques and Rufino Silva
    Citation: Orphanet Journal of Rare Diseases 2022 17:323
    Content type: Letter to the Editor Published on:

  17. Newborn screening (NBS) applications are limited as they can only cover a few genetic diseases and may have false positive or false negative rates. A new detection program called newborn genetic screening (NBG...

    Authors: Xin Wang, Xian-Wei Guan, Yan-Yun Wang, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Yun Sun and Tao Jiang
    Citation: Orphanet Journal of Rare Diseases 2022 17:322
    Content type: Research Published on:

  18. There is limited population-based data on Neurofibromatosis type 1 (NF1) in North America. We aimed to develop and validate algorithms using administrative health data and electronic medical records (EMRs) to ...

    Authors: Carolina Barnett, Elisa Candido, Branson Chen, Priscila Pequeno, Patricia C. Parkin and Karen Tu
    Citation: Orphanet Journal of Rare Diseases 2022 17:321
    Content type: Research Published on:

  20. Leber hereditary optic neuropathy (LHON) is an acute or subacute optic neuropathy that mainly affects young males. The first nationwide epidemiological survey of LHON was conducted in 2014 in Japan, and LHON w...

    Authors: Fumio Takano, Kaori Ueda, Daniel A. Godefrooij, Akiko Yamagami, Hiroto Ishikawa, Hideki Chuman, Hitoshi Ishikawa, Yasuhiro Ikeda, Taiji Sakamoto and Makoto Nakamura
    Citation: Orphanet Journal of Rare Diseases 2022 17:319
    Content type: Research Published on:

  21. Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently...

    Authors: Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa and Michael Wright
    Citation: Orphanet Journal of Rare Diseases 2022 17:318
    Content type: Research Published on:

  22. Around 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The o...

    Authors: Lisa Friedlander, Marc Vincent, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet and Nicolas Garcelon
    Citation: Orphanet Journal of Rare Diseases 2022 17:317
    Content type: Research Published on:

  23. Population frequency has been one of the most widely used criteria to help assign pathogenicity to newly described mitochondrial DNA variants. However, after sequencing this molecule in thousands of healthy in...

    Authors: M. Pilar Bayona-Bafaluy, Ester López-Gallardo, Sonia Emperador, David Pacheu-Grau, Julio Montoya and Eduardo Ruiz-Pesini
    Citation: Orphanet Journal of Rare Diseases 2022 17:316
    Content type: Letter to the Editor Published on:

  24. Authors: Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russell T. Shinohara, Ravinder Reddy, Kathryn A. Davis and Diva D. De León
    Citation: Orphanet Journal of Rare Diseases 2022 17:315
    Content type: Correction Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:248

  25. Standardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study was designed to evaluate DEB assessments for suitability as clinical t...

    Authors: Amy S. Paller, Elena Pope, Dan Rudin, Anna Malyala, Deborah Ramsdell, Ramsey Johnson, Hal Landy and Dedee F. Murrell
    Citation: Orphanet Journal of Rare Diseases 2022 17:314
    Content type: Research Published on:

  26. Epidermolysis bullosa is a rare, often severe, genetic disorder characterized by fragility of the skin and mucous membranes. Despite the important role of parents during wound care, an essential factor in adap...

    Authors: Petra J. Mauritz, Marieke Bolling, José C. Duipmans and Mariët Hagedoorn
    Citation: Orphanet Journal of Rare Diseases 2022 17:313
    Content type: Research Published on:

  28. Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasti...

    Authors: Mónica Álvarez-Córdoba, Diana Reche-López, Paula Cilleros-Holgado, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Rocío Piñero-Pérez and José A. Sánchez-Alcázar
    Citation: Orphanet Journal of Rare Diseases 2022 17:311
    Content type: Research Published on:

  29. Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause ...

    Authors: Julia Zibold, Bettina von Livonius, Hana Kolarova, Günter Rudolph, Claudia S. Priglinger, Thomas Klopstock and Claudia B. Catarino
    Citation: Orphanet Journal of Rare Diseases 2022 17:310
    Content type: Research Published on:

  30. Several retrospective studies have identified risk factors associated with ocular myasthenia gravis (OMG) generalization in non-surgical patients. However, the outcomes of OMG after thymectomy have not been in...

    Authors: Jinwei Zhang, Zeyang Zhang, Hui Zhang, Yuantao Cui, Yuan Chen, Peng Lv and Peng Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:309
    Content type: Research Published on:

  31. Thrombotic microangiopathies (TMA) are serious medical conditions requiring a prompt diagnosis to adapt treatment. The determination of ADAMTS-13 activity enables discriminating thrombotic thrombocytopenic pur...

    Authors: Clémence Merlen, Emmanuelle Pépin, Ousmane Barry, Anik Cormier, Caroline Dubois, Anne-Laure Lapeyraque, Stéphan Troyanov, Georges-Etienne Rivard and Arnaud Bonnefoy
    Citation: Orphanet Journal of Rare Diseases 2022 17:308
    Content type: Research Published on:

  32. Immunoglobulin G4-related disease (IgG4-RD) is a multisystem fibroinflammatory condition. The aim of the present study was to characterize the clinical features and therapeutic response of patients with IgG4-R...

    Authors: Wen An, Zhen Wu, Min Li, Haitian Yu, Xinyan Zhao, Xiaoming Wang, Yu Wang, Qianyi Wang, Weijia Duan, Yuanyuan Kong, Hong Ma, Xiaojuan Ou, Hong You, Yanying Liu, Peng Li, Ting Duan…
    Citation: Orphanet Journal of Rare Diseases 2022 17:307
    Content type: Research Published on:

  33. Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. FARSA, which encodes the α subunit of cytosolic phenylalanyl-tRNA synthe...

    Authors: Soo Yeon Kim, Saebom Ko, Hyunook Kang, Man Jin Kim, Jangsup Moon, Byung Chan Lim, Ki Joong Kim, Murim Choi, Hee-Jung Choi and Jong-Hee Chae
    Citation: Orphanet Journal of Rare Diseases 2022 17:306
    Content type: Research Published on:

  34. The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic diso...

    Authors: Gabriel Santos Malave, Natalio J. Izquierdo and Nestor P. Sanchez
    Citation: Orphanet Journal of Rare Diseases 2022 17:305
    Content type: Research Published on:

  35. Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains inco...

    Authors: David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant and Valerie Cormier-Daire
    Citation: Orphanet Journal of Rare Diseases 2022 17:304
    Content type: Research Published on:

  36. Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the contin...

    Authors: Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:303
    Content type: Research Published on:

  37. Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatr...

    Authors: A. L. S. Pessoa, A. M. Martins, E. M. Ribeiro, N. Specola, A. Chiesa, D. Vilela, E. Jurecki, D. Mesojedovas and I. V. D. Schwartz
    Citation: Orphanet Journal of Rare Diseases 2022 17:302
    Content type: Research Published on:

  38. SPG11-linked hereditary spastic paraplegia is characterized by multisystem neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive spasticity and weakness. Severe cognitive symp...

    Authors: Kathrin S. Utz, Zacharias Kohl, Dominique Cornelius Marterstock, Arnd Doerfler, Jürgen Winkler, Manuel Schmidt and Martin Regensburger
    Citation: Orphanet Journal of Rare Diseases 2022 17:301
    Content type: Research Published on:

  39. ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of ...

    Authors: Claude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, Renata S. Scalco and Basil T. Darras
    Citation: Orphanet Journal of Rare Diseases 2022 17:300
    Content type: Research Published on:

  40. The development of orphan drugs (ODs) is challenging from both development and business perspectives because of their small patient populations. To overcome such business challenges, lifecycle management (LCM)...

    Authors: Kiyoshi Seki, Hiroshi Suzuki, Seiji Abe and Chikako Saotome
    Citation: Orphanet Journal of Rare Diseases 2022 17:299
    Content type: Research Published on:

  41. Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic ...

    Authors: M. I. Luis Yanes, M. Diaz-Curiel, P. Peris, C. Vicente, S. Marin, M. Ramon-Krauel, J. Hernandez, J. J. Broseta, L. Espinosa, S. Mendizabal, L. Perez-Sukia, V. Martínez, C. Palazón, J. A. Piñero, M. A. Calleja, J. Espin…
    Citation: Orphanet Journal of Rare Diseases 2022 17:298
    Content type: Research Published on:

  42. Bibliometric have been widely applied to the evaluation of academic productivity. However, those of individuals or institutions on a specific disease have not been explored. The aim of the present study is to ...

    Authors: Lin Chen, Zhuoqi Lou, Yangxin Fang, Liya Pan, Jianhua Zhao, Yifan Zeng, Ying Wang, Nan Wang and Bing Ruan
    Citation: Orphanet Journal of Rare Diseases 2022 17:297
    Content type: Research Published on:

  43. In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arr...

    Authors: Ya-Ting Jan, Pei-Shan Tsai, Wen-Hui Huang, Shih-Chieh Huang, Yu-Peng Liu, She-Meng Cheng and Kun-Shuo Huang
    Citation: Orphanet Journal of Rare Diseases 2022 17:296
    Content type: Research Published on:

  44. Systemic mastocytosis is a rare genetic disease characterized by aberrant proliferation and/or activation of mast cells, resulting in multi-organ, allergy-like symptoms. Mast cell activation syndrome (MCAS) is...

    Authors: Tobias Jürgen Schmidt, Julia Sellin, Gerhard J. Molderings, Rupert Conrad and Martin Mücke
    Citation: Orphanet Journal of Rare Diseases 2022 17:295
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:29

  46. Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary...

    Authors: Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa and Klaus Mohnike
    Citation: Orphanet Journal of Rare Diseases 2022 17:293
    Content type: Position statement Published on:

  47. Fever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease spectrum, genetic factors have received increasing attention. Limited studies...

    Authors: Bijun Sun, Mi Yang, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Haili Yao, Jinqiao Sun and Xiaochuan Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:292
    Content type: Research Published on:

  48. Fabry disease (FD) is a rare X-linked, lysosomal storage disorder caused by mutations in the alpha-galactosidase gene and characterized by neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and...

    Authors: Marco Marenco, Marco Segatto, Marta Sacchetti, Pietro Mangiantini, Francesca Giovannetti and Rocco Plateroti
    Citation: Orphanet Journal of Rare Diseases 2022 17:291
    Content type: Research Published on:

  49. Bullous systemic lupus erythematosus (BSLE) is a rare subtype of systemic lupus erythematosus (SLE) that is clinically characterized by subepidermal tense vesicles or bullae. We aimed to investigate the clinic...

    Authors: Lin Qiao, Bingjie Zhang, Wenjie Zheng, Mengtao Li, Yan Zhao, Xiaofeng Zeng, Fengchun Zhang, Li Wang and Li Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:290
    Content type: Research Published on:

  50. To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC).

    Authors: Cong Luo, Ye Zhang, Yu-shi Zhang, Ming-Xin Zhang, Jun Ning, Min-Feng Chen, Yuan Li, Lin Qi, Xiong-Bing Zu, Yang-Le Li and Yi Cai
    Citation: Orphanet Journal of Rare Diseases 2022 17:288
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172