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  1. Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofib...

    Authors: Christina Bergqvist, François Hemery, Salah Ferkal and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2020 15:186

    Content type: Letter to the Editor

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  2. Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent...

    Authors: Joan D. Beckman, Quefeng Li, Samuel T. Hester, Ofri Leitner, Karen L. Smith and Raj S. Kasthuri

    Citation: Orphanet Journal of Rare Diseases 2020 15:185

    Content type: Research

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  4. NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, the...

    Authors: Xiao-Hong Xie, Li-Qiang Wang, Yin-Yin Qin, Xin-Qing Lin, Zhan-Hong Xie, Ming Liu, Jie-Xia Zhang, Ming Ouyang, Jun Liu, Ying-Ying Gu, Shi-Yue Li and Cheng-Zhi Zhou

    Citation: Orphanet Journal of Rare Diseases 2020 15:183

    Content type: Research

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  5. Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compound...

    Authors: Christine Prodinger, Anja Diem, Katherina Ude-Schoder, Josefina Piñón-Hofbauer, Sophie Kitzmueller, Johann W. Bauer and Martin Laimer

    Citation: Orphanet Journal of Rare Diseases 2020 15:182

    Content type: Research

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  6. Autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (ANM-SRP) is regarded as refractory myositis, whereby some patients respond poorly to conventional immunosuppression and require...

    Authors: Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang and Yun Yuan

    Citation: Orphanet Journal of Rare Diseases 2020 15:181

    Content type: Research

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  7. Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being us...

    Authors: Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau…

    Citation: Orphanet Journal of Rare Diseases 2020 15:180

    Content type: Research

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  8. Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of tre...

    Authors: Teresa Coelho, David Adams, Isabel Conceição, Márcia Waddington-Cruz, Hartmut H. Schmidt, Juan Buades, Josep Campistol, John L. Berk, Michael Polydefkis, Jing Jing Wang, Jihong Chen, Marianne T. Sweetser, Jared Gollob and Ole B. Suhr

    Citation: Orphanet Journal of Rare Diseases 2020 15:179

    Content type: Research

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  9. Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare disease...

    Authors: Jeffrey A. Glassberg, Elizabeth A. Linton, Katrina Burson, Tabitha Hendershot, Joseph Telfair, Julie Kanter, Victor R. Gordeuk, Allison A. King, Cathy L. Melvin, Nirmish Shah, Jane S. Hankins, Axel Yannick Epié and Lynne D. Richardson

    Citation: Orphanet Journal of Rare Diseases 2020 15:178

    Content type: Research

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  10. Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of th...

    Authors: Thamal Darshana, Dayananda Bandara, Upul Nawarathne, Udaya de Silva, Yasinta Costa, Kalavitigoda Pushpakumara, Sumithra Pathirage, Seuwandi Basnayake, Chamila Epa, Pradeepa Dilrukshi, Maheshaka Wijayawardena, Angela A. Anthony, Rexan Rodrigo, Aresha Manamperi, Frances Smith, Angela Allen…

    Citation: Orphanet Journal of Rare Diseases 2020 15:177

    Content type: Research

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  11. The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD).

    Authors: Wenshuai Xu, Zhiyan Xu, Yaping Liu, Yongzhong Zhan, Xin Sui, Ruie Feng, Min Peng, Xue Li, Jun Wang, Shuzhen Meng, Li Wang, Xinlun Tian, Xue Zhang and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2020 15:176

    Content type: Research

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  12. Urinary dysfunction is one of the main features of human T-cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). However, a comprehensive assessment of the severity is diffic...

    Authors: Natsuko Yamakawa, Naoko Yagishita, Tomohiro Matsuo, Junji Yamauchi, Takahiko Ueno, Eisuke Inoue, Ayako Takata, Misako Nagasaka, Natsumi Araya, Daisuke Hasegawa, Ariella Coler-Reilly, Shuntaro Tsutsumi, Tomoo Sato, Abelardo Araujo, Jorge Casseb, Eduardo Gotuzzo…

    Citation: Orphanet Journal of Rare Diseases 2020 15:175

    Content type: Research

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  13. Treatment of autoimmune pulmonary alveolar proteinosis (aPAP) by inhaled granulocyte-macrophage colony stimulating factor (GM-CSF) is considered safe and effective. Evidence of benefit from GM-CSG inhalation f...

    Authors: Xinlun Tian, Yanli Yang, Lulu Chen, Xin Sui, Wenshuai Xu, Xue Li, Xiaobei Guo, Lingshan Liu, Yusen Situ, Jun Wang, Yang Zhao, Shuzhen Meng, Wei Song, Yonglong Xiao and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2020 15:174

    Content type: Research

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  14. Macrophages play a significant role in liver disease development and progression. The macrophage activation marker soluble (s)CD163 is associated with severity and prognosis in a number of different acute and ...

    Authors: Emilie Glavind, Daniel N. Gotthardt, Jan Pfeiffenberger, Thomas Damgaard Sandahl, Teodora Bashlekova, Gro Linno Willemoe, Jane Preuss Hasselby, Karl Heinz Weiss, Holger Jon Møller, Hendrik Vilstrup, William M. Lee, Michael L. Schilsky, Peter Ott and Henning Grønbæk

    Citation: Orphanet Journal of Rare Diseases 2020 15:173

    Content type: Research

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  15. X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activ...

    Authors: Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala and Zulf Mughal

    Citation: Orphanet Journal of Rare Diseases 2020 15:172

    Content type: Research

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  16. Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.

    Authors: A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani…

    Citation: Orphanet Journal of Rare Diseases 2020 15:171

    Content type: Review

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  17. Fanconi anemia is a rare disease clinically characterized by malformations, bone marrow failure and an increased risk of solid tumors and hematologic malignancies. The only therapies available are hematopoieti...

    Authors: Helena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, Maria Häggblad, Bo Lundgren, Miriam Aza-Carmona, Thomas Helleday, Jordi Minguillón and Jordi Surrallés

    Citation: Orphanet Journal of Rare Diseases 2020 15:170

    Content type: Research

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  18. The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.

    Authors: Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos and Javier Llorca

    Citation: Orphanet Journal of Rare Diseases 2020 15:168

    Content type: Research

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  20. Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results i...

    Authors: Ibrahim Kalle Kwaifa, Mei I. Lai and Sabariah Md Noor

    Citation: Orphanet Journal of Rare Diseases 2020 15:166

    Content type: Review

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  21. Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion be...

    Authors: Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager…

    Citation: Orphanet Journal of Rare Diseases 2020 15:165

    Content type: Position statement

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  22. Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding ...

    Authors: Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle…

    Citation: Orphanet Journal of Rare Diseases 2020 15:164

    Content type: Position statement

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  23. In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, impr...

    Authors: Layla Damen, Stephany H. Donze, Renske J. Kuppens, Nienke E. Bakker, Laura C. G. de Graaff, Janielle A. E. M. van der Velden and Anita C. S. Hokken-Koelega

    Citation: Orphanet Journal of Rare Diseases 2020 15:163

    Content type: Research

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  24. Hypoglycaemia due to hyperinsulinism (HI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Cohort outcomes of HI remain to be described and whilst previous follow up studies have focused...

    Authors: Chris Worth, Laila Al Hashmi, Daphne Yau, Maria Salomon-Estebanez, Diego Perez Ruiz, Caroline Hall, Elaine O’Shea, Helen Stokes, Peter Foster, Sarah E. Flanagan, Karen E Cosgrove, Mark J Dunne and Indraneel Banerjee

    Citation: Orphanet Journal of Rare Diseases 2020 15:162

    Content type: Research

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  25. Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single ...

    Authors: Klane K. White, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Ravi Savarirayan

    Citation: Orphanet Journal of Rare Diseases 2020 15:161

    Content type: Research

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  26. Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD vari...

    Authors: Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino and Lee-Jun C. Wong

    Citation: Orphanet Journal of Rare Diseases 2020 15:160

    Content type: Research

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  27. As lack of awareness of rare diseases (RDs) among healthcare professionals results in delayed diagnoses, there is a need for a more efficient approach to RD training during academic education. We designed an e...

    Authors: S. Sanges, M.-M. Farhat, M. Assaraf, J. Galland, E. Rivière, C. Roubille, M. Lambert, C. Yelnik, H. Maillard, V. Sobanski, G. Lefèvre, D. Launay, S. Morell-Dubois and E. Hachulla

    Citation: Orphanet Journal of Rare Diseases 2020 15:159

    Content type: Review

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  28. Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD...

    Authors: Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast and Jay A. Barth

    Citation: Orphanet Journal of Rare Diseases 2020 15:158

    Content type: Research

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  29. Inherited heart disease represent a very heterogenous group of cardiac disorders, characterized by inherited, acquired, and often rare disorders affecting the heart muscle (cardiomyopathies) or the cardiac ele...

    Authors: Giuseppe Limongelli and Lia Crotti

    Citation: Orphanet Journal of Rare Diseases 2020 15:157

    Content type: Letter to the Editor

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  30. In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal sy...

    Authors: Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi and Eloisa Arbustini

    Citation: Orphanet Journal of Rare Diseases 2020 15:156

    Content type: Letter to the Editor

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  31. Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur...

    Authors: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang and Qi Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:155

    Content type: Research

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  32. Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mor...

    Authors: Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Li-Ying Sun, Hai-Bo Wang and Zhi-Jun Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:154

    Content type: Research

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  33. Extra-pelvic intravenous leiomyomatosis (IVL) extending into inferior vena cava (IVC) or heart (i.e. intracardiac leiomyomatosis, ICL) is an extremely rare benign disease. No consensus has been reached on the ...

    Authors: Hua Li, Jing Xu, Qiaowei Lin, Yong Zhang, Yun Zhao, Hanxing Tong, Ruiqin Tu, Demin Xu, Chunsheng Wang and Weiqi Lu

    Citation: Orphanet Journal of Rare Diseases 2020 15:153

    Content type: Research

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  34. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointesti...

    Authors: Kimberly Goodspeed, Geraldine Bliss and Diane Linnehan

    Citation: Orphanet Journal of Rare Diseases 2020 15:152

    Content type: Research

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  35. Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschspr...

    Authors: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi…

    Citation: Orphanet Journal of Rare Diseases 2020 15:151

    Content type: Research

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  36. Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF ...

    Authors: Keqiang Liu, Wenshuai Xu, Meng Xiao, Xinyue Zhao, Chun Bian, Qianli Zhang, Jiaxing Song, Keqi Chen, Xinlun Tian, Yaping Liu, Kai-Feng Xu and Xue Zhang

    Citation: Orphanet Journal of Rare Diseases 2020 15:150

    Content type: Research

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  37. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Consequently, patients undergo a multidisciplinary treatment that often requires intensive use of medical resources. This study provid...

    Authors: Erik Schönfelder, Alma Osmanovic, Lars Hendrik Müschen, Susanne Petri and Olivia Schreiber-Katz

    Citation: Orphanet Journal of Rare Diseases 2020 15:149

    Content type: Research

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  38. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in F...

    Authors: Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier…

    Citation: Orphanet Journal of Rare Diseases 2020 15:148

    Content type: Research

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  39. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.

    Authors: Qian Lu, Xiu-Yu Shi, Yang-Yang Wang, Meng-Na Zhang, Wen-Ze Wang, Jing Wang, Qiu-Hong Wang, Hui-Min Chen and Li-Ping Zou

    Citation: Orphanet Journal of Rare Diseases 2020 15:147

    Content type: Research

    Published on:

  40. Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about h...

    Authors: Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield and Robert Hoehndorf

    Citation: Orphanet Journal of Rare Diseases 2020 15:146

    Content type: Research

    Published on:

  41. Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that in...

    Authors: Julia Schaefer, Moritz Lehne, Josef Schepers, Fabian Prasser and Sylvia Thun

    Citation: Orphanet Journal of Rare Diseases 2020 15:145

    Content type: Review

    Published on:

  42. With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disord...

    Authors: Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira and Olaf Hiort

    Citation: Orphanet Journal of Rare Diseases 2020 15:144

    Content type: Review

    Published on:

  43. Late onset Pompe disease (LOPD) is a lysosomal neuromuscular disorder which can progressively impair the patients’ exercise tolerance, motor and respiratory functions, and quality of life. The available enzyme...

    Authors: Annalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, Rita Frangiamore, Ramona De Amicis, Mauro Marzorati, Simone Porcelli, Annarita Tullio, Anna Bacco, Simona Bertoli, Andrea Dardis, Lea Biasutti, Maria Barbara Pasanisi, Grazia Devigili and Bruno Bembi

    Citation: Orphanet Journal of Rare Diseases 2020 15:143

    Content type: Research

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  44. Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence o...

    Authors: Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2020 15:142

    Content type: Review

    Published on:

  45. Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to es...

    Authors: Salvatore Crisafulli, Janet Sultana, Andrea Fontana, Francesco Salvo, Sonia Messina and Gianluca Trifirò

    Citation: Orphanet Journal of Rare Diseases 2020 15:141

    Content type: Review

    Published on:

  46. Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare d...

    Authors: Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman and Neil Oxborrow

    Citation: Orphanet Journal of Rare Diseases 2020 15:140

    Content type: Research

    Published on:

  47. Alström syndrome (ALMS) is a rare ciliopathy characterised by early onset insulin resistance, obesity, and dyslipidaemia and is a model for diseases that have huge social, health and economic impact. Cardiomyo...

    Authors: Shanat Baig, Rory Dowd, Nicola C. Edwards, James Hodson, Larissa Fabritz, Ravi Vijapurapu, Boyang Liu, Tarekegn Geberhiwot and Richard P. Steeds

    Citation: Orphanet Journal of Rare Diseases 2020 15:139

    Content type: Research

    Published on:

  48. Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are dete...

    Authors: Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía and Antoni Riera-Mestre

    Citation: Orphanet Journal of Rare Diseases 2020 15:138

    Content type: Research

    Published on:

  49. Hemophilia, a high-cost disease, is the only rare disease covered by basic medical insurance in all province of China. However, very few studies have estimated the medical expenditure of patients with this rar...

    Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:137

    Content type: Research

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  50. Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Various dietary strategies have been used for weight management for people with PWS.

    Authors: Grace Felix, Eric Kossoff, Bobbie Barron, Caitlin Krekel, Elizabeth Getzoff Testa and Ann Scheimann

    Citation: Orphanet Journal of Rare Diseases 2020 15:135

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172