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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. No results of controlled trials are available for any of the few treatments offered to children with interstitial lung diseases (chILD). We evaluated hydroxychloroquine (HCQ) in a phase 2, prospective, multice...

    Authors: Matthias Griese, Matthias Kappler, Florian Stehling, Johannes Schulze, Winfried Baden, Cordula Koerner-Rettberg, Julia Carlens, Freerk Prenzel, Lutz Nährlich, Andreas Thalmeier, Daniela Sebah, Kai Kronfeld, Hans Rock, Christian Ruckes, Martin Wetzke, Elias Seidl…
    Citation: Orphanet Journal of Rare Diseases 2022 17:289
  23. 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
  24. Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, heari...

    Authors: Julia B. Hennermann, Eva M. Raebel, Francesca Donà, Marie-Line Jacquemont, Graziella Cefalo, Andrea Ballabeni and Dag Malm
    Citation: Orphanet Journal of Rare Diseases 2022 17:287
  25. Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clin...

    Authors: Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz…
    Citation: Orphanet Journal of Rare Diseases 2022 17:286
  26. Glycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients w...

    Authors: Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici and Arianna Maiorana
    Citation: Orphanet Journal of Rare Diseases 2022 17:285
  27. Congenital portosystemic shunts (CPSS) are rare vascular malformations associated with the risk of life-threatening systemic conditions, which remain underdiagnosed and often are identified after considerable ...

    Authors: Simona Korff, Khaled Mostaguir, Maurice Beghetti, Lorenzo D’Antiga, Dominique Debray, Stéphanie Franchi-Abella, Emmanuel Gonzales, Florent Guerin, Anne-Lise Hachulla, Virginie Lambert, Periklis Makrythanasis, Nicolas Roduit, Laurent Savale, Marie-Victoire Senat, Joël Spaltenstein, Frank van Steenbeek…
    Citation: Orphanet Journal of Rare Diseases 2022 17:284
  28. Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about...

    Authors: Bo Peng, Yong-hua Gao, Jia-qi Xie, Xiao-wen He, Cong-cong Wang, Jin-fu Xu and Guo-jun Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:283
  29. Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic t...

    Authors: Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak and Olga Haus
    Citation: Orphanet Journal of Rare Diseases 2022 17:282
  30. Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients’ daily lives. To date, no scale has been validated to asses...

    Authors: Thi Thao Truc Le, Guillaume Martinent, Sophie Dupuis-Girod, Antoine Parrot, Anne Contis, Sophie Riviere, Thierry Chinet, Vincent Grobost, Olivier Espitia, Brigitte Dussardier-Gilbert, Laurent Alric, Guillaume Armengol, Hélène Maillard, Vanessa Leguy-Seguin, Sylvie Leroy, Murielle Rondeau-Lutz…
    Citation: Orphanet Journal of Rare Diseases 2022 17:281
  31. Gaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder that adversely affects life expectancy and health-related quality of life (HRQOL). Although HRQOL questionnaires are available for...

    Authors: Yuta Koto, Aya Narita, Shinichi Noto, Midori Ono, Anna Lissa Hamada and Norio Sakai
    Citation: Orphanet Journal of Rare Diseases 2022 17:280
  32. Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the ro...

    Authors: Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt and J. A. Mayr
    Citation: Orphanet Journal of Rare Diseases 2022 17:279
  33. Amyloid light-chain (AL) amyloidosis is an ultra-rare disease associated with significant morbidity and mortality. Few studies have examined the global epidemiology of this condition.

    Authors: Nishant Kumar, Nicole J. Zhang, Dasha Cherepanov, Dorothy Romanus, Michael Hughes and Douglas V. Faller
    Citation: Orphanet Journal of Rare Diseases 2022 17:278
  34. The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replaceme...

    Authors: Kathryn M. Dahir, Lothar Seefried, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang and Cheryl Rockman-Greenberg
    Citation: Orphanet Journal of Rare Diseases 2022 17:277
  35. The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) ...

    Authors: Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer and Tim Hagenacker
    Citation: Orphanet Journal of Rare Diseases 2022 17:276
  36. Secreted R-spondin (RSPO) proteins play a key role in reproductive organ development, epithelial stem cell renewal and cancer induction by reinforcing canonical Wnt signaling. We have previously reported that ...

    Authors: Elena Dellambra, Sonia Cordisco, Francesca Delle Monache, Sergio Bondanza, Massimo Teson, Ezio Maria Nicodemi, Biagio Didona, Angelo Giuseppe Condorelli, Giovanna Camerino, Daniele Castiglia and Liliana Guerra
    Citation: Orphanet Journal of Rare Diseases 2022 17:275
  37. Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and children, leading to muscle wasting and weakness, and premature death. Due to new developments of mul...

    Authors: Maja Brandt, Lene Johannsen, Laura Inhestern and Corinna Bergelt
    Citation: Orphanet Journal of Rare Diseases 2022 17:274
  38. Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in ...

    Authors: Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim and Carlos R. Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:273
  39. Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin–proteasome system that provides protein quality control. VCP-associated inclusion body myopath...

    Authors: Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith and Virginia Kimonis
    Citation: Orphanet Journal of Rare Diseases 2022 17:272
  40. Complex vascular malformations (VMs) are rare disorders that can cause pain, coagulopathy, disfigurement, asymmetric growth, and disability. Patients with complex VMs experience misdiagnosis, delayed diagnosis...

    Authors: Bryan A. Sisk, Anna Kerr and Katherine A. King
    Citation: Orphanet Journal of Rare Diseases 2022 17:271
  41. Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-rela...

    Authors: Jodi Y. So, Shivali Fulchand, Christine Y. Wong, Shufeng Li, Jaron Nazaroff, Emily S. Gorell, Mark P. de Souza, Dedee F. Murrell, Joyce M. Teng, Albert S. Chiou and Jean Y. Tang
    Citation: Orphanet Journal of Rare Diseases 2022 17:270
  42. Langerhans cell histiocytosis (LCH) is a myeloid dendritic cell disorder frequently affecting children more than adults. The presentation of LCH varies with age, however, the clinical characteristics and genet...

    Authors: Hua-cong Cai, Jia Chen, Ting Liu, Hao Cai, Ming-hui Duan, Jian Li, Dao-bin Zhou and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2022 17:268
  43. Pituitary stalk interruption syndrome (PSIS) is a rare disease caused by congenital pituitary anatomical defects. The underlying mechanisms remain unclear, and the diagnosis is difficult. Here, integrated meta...

    Authors: Ye Guo, Xiaogang Li, Xi Wang, Haolong Li, Guoju Luo, Yongzhen Si, Xueyan Wu and Yongzhe Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:267
  44. Fabry Disease (FD) is a rare X-linked metabolic lysosomal disorder. FD has a broad range of symptoms which vary markedly between patients. The heterogenous nature of the disease makes diagnosis difficult for h...

    Authors: Lisa Bashorum, Gerard McCaughey, Owen Evans, Ashley C. Humphries, Richard Perry and Alasdair MacCulloch
    Citation: Orphanet Journal of Rare Diseases 2022 17:266
  45. Malignant hyperthermia (MH) is a rare, hereditary disease with a hypermetabolic response to volatile anesthetics/succinylcholine. Susceptible patients face difficulties due to a lack of knowledge about MH. As ...

    Authors: Gislene Rodrigues, Pamela Vieira de Andrade, Joilson Moura dos Santos, José Luiz Gomes do Amaral and Helga Cristina Almeida da Silva
    Citation: Orphanet Journal of Rare Diseases 2022 17:265
  46. Oxidative stress is postulated to have a major role in the pathophysiology of Bechet’s Disease (BD). Growing evidence suggests that vitamin D has important roles in enhancing the expression of anti-inflammator...

    Authors: Heba S. Omar, Fatma Mohamed Taha, Suzanne Fouad, Fatma A. Ibrahim, Aliaa El Gendy, Iman H. Bassyouni and Reem El-Shazly
    Citation: Orphanet Journal of Rare Diseases 2022 17:264
  47. Previous studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, and a lower quality of life (QoL). The relationship with biological a...

    Authors: Kim F. E. van de Loo, Nander T. van Zeijl, José A. E. Custers, Mirian C. H. Janssen and Christianne M. Verhaak
    Citation: Orphanet Journal of Rare Diseases 2022 17:263
  48. Transthyretin cardiac amyloidosis, also known as transthyretin cardiomyopathy (ATTR-CM) is a poorly-recognized disease with delayed diagnosis and poor prognosis. This nationwide population-based study aimed to...

    Authors: Suk-Chan Jang, Jin Hyun Nam, Seung-Ah Lee, Dasom An, Hye-Lin Kim, Sun-Hong Kwon and Eui-Kyung Lee
    Citation: Orphanet Journal of Rare Diseases 2022 17:262