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  1. Winning entry to the Student Voice 2019. The article focuses on a personal encounter that I had as a medical student when I was sent off to ‘study’ a patient with a rare disease who had been admitted to hospital.

    Authors: Anna-Lucia Koerling

    Citation: Orphanet Journal of Rare Diseases 2020 15:50

    Content type: Letter to the Editor

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  2. Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early th...

    Authors: Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger and Friedrich Trefz

    Citation: Orphanet Journal of Rare Diseases 2020 15:61

    Content type: Research

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  3. Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the...

    Authors: Aurore Curie, Nathalie Touil, Ségolène Gaillard, Damien Galanaud, Nicolas Leboucq, Georges Deschênes, Denis Morin, Fanny Abad, Jacques Luauté, Eurielle Bodenan, Laurent Roche, Cécile Acquaviva, Christine Vianey-Saban, Pierre Cochat, François Cotton and Aurélia Bertholet-Thomas

    Citation: Orphanet Journal of Rare Diseases 2020 15:59

    Content type: Research

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  4. Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration. Although olfactory dysfunction, a classical clinic...

    Authors: Raul Alfaro, Tasha Doty, Anagha Narayanan, Heather Lugar, Tamara Hershey and M. Yanina Pepino

    Citation: Orphanet Journal of Rare Diseases 2020 15:57

    Content type: Research

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  5. Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the gener...

    Authors: Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg and Mette Christophersen Tollånes

    Citation: Orphanet Journal of Rare Diseases 2020 15:56

    Content type: Research

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  6. People with Prader-Willi Syndrome (PWS) experience great difficulties in social adaptation that could be explained by disturbances in emotional competencies. However, current knowledge about the emotional func...

    Authors: Nawelle Famelart, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Mélanie Glattard, Catherine Molinas, Michèle Guidetti and Maithe Tauber

    Citation: Orphanet Journal of Rare Diseases 2020 15:55

    Content type: Research

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  7. Thalassaemia is a potentially life-threatening yet preventable inherited hemoglobin disorder. Understanding local socio-cultural context and level of public awareness about thalassaemia is pivotal for selectin...

    Authors: Mohammad Sorowar Hossain, Md. Mahbub Hasan, Enayetur Raheem, Muhammad Sougatul Islam, Abdullah Al Mosabbir, Mary Petrou, Paul Telfer and Mahbubul H. Siddiqee

    Citation: Orphanet Journal of Rare Diseases 2020 15:54

    Content type: Research

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  8. Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use ketones as a primary substrat...

    Authors: Kaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun, Beena Devanapalli, Sue Thompson, Troy Dalkeith, Kate Lichkus and Michel Tchan

    Citation: Orphanet Journal of Rare Diseases 2020 15:53

    Content type: Research

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  9. Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain a...

    Authors: Konrad Bork, Karin Wulff, Guenther Witzke, Thomas Machnig and Jochen Hardt

    Citation: Orphanet Journal of Rare Diseases 2020 15:52

    Content type: Research

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  10. Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low levels of serum alkaline phosphatase (ALP). Scarce evidence exists about features that should signal the potential association betwe...

    Authors: C. Tornero, V. Navarro-Compán, J. A. Tenorio, S. García-Carazo, A. Buño, I. Monjo, C. Plasencia-Rodriguez, J. M. Iturzaeta, P. Lapunzina, K. E. Heath, A. Balsa and P. Aguado

    Citation: Orphanet Journal of Rare Diseases 2020 15:51

    Content type: Research

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  11. RPE65-associated LCA (RPE65-LCA) is an inherited retinal degeneration caused by the mutations of RPE65 gene and gene therapy has been developed to be a promising treatment. This study aims to evaluate the associa...

    Authors: Xue Wang, Chaofeng Yu, Radouil T. Tzekov, Yihua Zhu and Wensheng Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:49

    Content type: Review

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  12. Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence re...

    Authors: Narendranath Epperla, Melissa Pavilack, Temitope Olufade, Richa Bashyal, Jieni Li, Shaum M. Kabadi, Huseyin Yuce and Leslie Andritsos

    Citation: Orphanet Journal of Rare Diseases 2020 15:47

    Content type: Research

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  13. Alkaptonuria (AKU) is an ultra-rare autosomal recessive disease caused by a mutation in the homogentisate 1,2-dioxygenase (HGD) gene. One of the main obstacles in studying AKU, and other ultra-rare diseases, i...

    Authors: Ottavia Spiga, Vittoria Cicaloni, Cosimo Fiorini, Alfonso Trezza, Anna Visibelli, Lia Millucci, Giulia Bernardini, Andrea Bernini, Barbara Marzocchi, Daniela Braconi, Filippo Prischi and Annalisa Santucci

    Citation: Orphanet Journal of Rare Diseases 2020 15:46

    Content type: Research

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  14. Glycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed ...

    Authors: Yoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, Gu-Hwan Kim, Kyung-Mo Kim and Han-Wook Yoo

    Citation: Orphanet Journal of Rare Diseases 2020 15:45

    Content type: Research

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  15. Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and spe...

    Authors: Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez and Susanna Balcells

    Citation: Orphanet Journal of Rare Diseases 2020 15:44

    Content type: Research

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  16. Prader-Willi Syndrome (PWS) is a genetic disorder caused by the lack of expression of certain paternal genes located on chromosome 15q11-q13. This anomaly causes cognitive, neurological and endocrine abnormali...

    Authors: Carla Munné-Miralvés, Lluís Brunet-Llobet, Abel Cahuana-Cárdenas, Sergi Torné-Durán, Jaume Miranda-Rius and Alejandro Rivera-Baró

    Citation: Orphanet Journal of Rare Diseases 2020 15:43

    Content type: Research

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  17. Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellect...

    Authors: Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen and Annet M. Bosch

    Citation: Orphanet Journal of Rare Diseases 2020 15:42

    Content type: Research

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  18. Despite the low prevalence of uveitis in pediatric rheumatic diseases, potential problems as well as high disease burden can complicate its management. In this review, we systematically assessed the epidemiolo...

    Authors: Mohsen Jari, Reza Shiari, Omid Salehpour and Khosro Rahmani

    Citation: Orphanet Journal of Rare Diseases 2020 15:41

    Content type: Review

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  19. Defects in the glycosylphosphatidylinositol (GPI) biosynthesis pathway can result in a group of congenital disorders of glycosylation known as the inherited GPI deficiencies (IGDs). To date, defects in 22 of t...

    Authors: Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson and Peter N. Robinson

    Citation: Orphanet Journal of Rare Diseases 2020 15:40

    Content type: Research

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  20. The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years. Here we report the first 70,000 newborns screened for Mucopol...

    Authors: Yin-Hsiu Chien, Ni-Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao-Chin Chiu, Shao-Yin Chu, Chen-Hao Lee, An-Ru Lee and Wuh-Liang Hwu

    Citation: Orphanet Journal of Rare Diseases 2020 15:38

    Content type: Research

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  21. Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and ortho...

    Authors: Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2020 15:37

    Content type: Position statement

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  22. Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive ...

    Authors: Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska and Anna Wasilewska

    Citation: Orphanet Journal of Rare Diseases 2020 15:36

    Content type: Research

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  23. Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficien...

    Authors: Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani and Mohammad Hossein Modarressi

    Citation: Orphanet Journal of Rare Diseases 2020 15:35

    Content type: Research

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  24. In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh wh...

    Authors: Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan and Daniel Coriu

    Citation: Orphanet Journal of Rare Diseases 2020 15:34

    Content type: Research

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  25. The Rare Immunodeficiency, AutoInflammatory and AutoImmune Disease (RITA) network is a European Research Network (ERN) that brings together the leading centres for rare immune disorders. On April 2018 an onlin...

    Authors: Riccardo Papa, Andrew Cant, Christoph Klein, Mark A. Little, Nico M. Wulffraat, Marco Gattorno and Nicolino Ruperto

    Citation: Orphanet Journal of Rare Diseases 2020 15:33

    Content type: Letter to the Editor

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  26. Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagno...

    Authors: Ahra Cho, Jose Ronaldo Lima de Carvalho Jr, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2020 15:32

    Content type: Research

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  27. Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neu...

    Authors: Manuela Baldo Schubert and Laura Vilarinho

    Citation: Orphanet Journal of Rare Diseases 2020 15:31

    Content type: Review

    Published on:

  28. Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of un...

    Authors: Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins and João B. Pesquero

    Citation: Orphanet Journal of Rare Diseases 2020 15:30

    Content type: Research

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  29. Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to invest...

    Authors: Xiaoyu Yu, Yun Lin, Jun Xu, Tuanjie Che, Lin Li, Tao Yang and Hao Wu

    Citation: Orphanet Journal of Rare Diseases 2020 15:29

    Content type: Research

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  30. Despite the high prevalence of depressive symptoms in Fabry disease (FD), it is unclear which patient characteristics are important in relation to these symptoms. Additionally, the impact of coping styles in r...

    Authors: Simon Körver, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. van Schaik, Maria G. F. Longo, Marjana R. Lima, Leonardo Vedolin, Marcel G. W. Dijkgraaf and Mirjam Langeveld

    Citation: Orphanet Journal of Rare Diseases 2020 15:28

    Content type: Research

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  31. To compare the similarity of the non-patented T2* and the high cost patented R2 (Ferriscan®) MRI techniques in the measurement of liver iron concentration (LIC) in heavily transfused patients with thalassaemia...

    Authors: Padmapani Padeniya, Shirom Siriwardana, Dileepa Ediriweera, Nayana Samarasinghe, Sasanka Silva, Ishari Silva, Nizri Ahamed, Madunil Niriella and Anuja Premawardhena

    Citation: Orphanet Journal of Rare Diseases 2020 15:26

    Content type: Letter to the Editor

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  32. Childhood interstitial lung diseases (ILD) (chILD) refer to a rare heterogeneous group of disorders. Global collaborations have been working on the etiologies and classification scheme of chILD. With the devel...

    Authors: Xiaolei Tang, Huimin Li, Hui Liu, Hui Xu, Haiming Yang, Jinrong Liu and Shunying Zhao

    Citation: Orphanet Journal of Rare Diseases 2020 15:25

    Content type: Research

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  33. Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the pe...

    Authors: Lili Yang, Qiong Zhou, Bo Ma, Shujiong Mao, Yanli Dai, Mingqiang Zhu and Chaochun Zou

    Citation: Orphanet Journal of Rare Diseases 2020 15:24

    Content type: Research

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  34. This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly...

    Authors: Johann Philipp Zöllner, David Neal Franz, Christoph Hertzberg, Rima Nabbout, Felix Rosenow, Matthias Sauter, Susanne Schubert-Bast, Adelheid Wiemer-Kruel and Adam Strzelczyk

    Citation: Orphanet Journal of Rare Diseases 2020 15:23

    Content type: Review

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  35. Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obes...

    Authors: Kuzma Strenilkov, Jimmy Debladis, Juliette Salles, Marion Valette, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone and Maïthé Tauber

    Citation: Orphanet Journal of Rare Diseases 2020 15:22

    Content type: Research

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  36. No information is currently available regarding the natural history of asymptomatic intracranial aneurysms in beta-thalassemia, raising several concerns about their proper management.

    Authors: Renzo Manara, Martina Caiazza, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Caterina Maietta, Daniela Capalbo, Camilla Russo, Domenico Roberti, Maddalena Casale, Andrea Elefante, Fabrizio Esposito, Sara Ponticorvo, Andrea Gerardo Russo, Antonietta Canna, Mario Cirillo…

    Citation: Orphanet Journal of Rare Diseases 2020 15:21

    Content type: Research

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  37. Evidence supports that hereditary angioedema (HAE) may be considered as a paroxysmal permeability disorder with defective but self-limiting endothelial barrier dysfunction. A potential subclinical abnormal vas...

    Authors: Paola Triggianese, Massimo Cesareo, Maria Domenica Guarino, Paola Conigliaro, Maria Sole Chimenti, Francesca Cedola, Caterina Mazzeo, Carlo Nucci and Roberto Perricone

    Citation: Orphanet Journal of Rare Diseases 2020 15:20

    Content type: Letter to the Editor

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  38. Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological si...

    Authors: Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä and Sari Atula

    Citation: Orphanet Journal of Rare Diseases 2020 15:19

    Content type: Research

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  39. Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be cau...

    Authors: Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero and Josefa Gil-de-Gómez

    Citation: Orphanet Journal of Rare Diseases 2020 15:18

    Content type: Research

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  40. Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because o...

    Authors: Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia…

    Citation: Orphanet Journal of Rare Diseases 2020 15:17

    Content type: Research

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  41. The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patient...

    Authors: P. Jara, A. Baker, U. Baumann, A. M. Borobia, S. Branchereu, M. Candusso, A. J. Carcas, C. Chardot, J. Cobas, L. D’Antiga, C. Ferreras, E. Fitzpatrick, E. Frauca, F. Hernández-Oliveros, P. Kaliciński, C. Lindemans…

    Citation: Orphanet Journal of Rare Diseases 2020 15:16

    Content type: Position statement

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  42. ß-thalassemia is one of the most common inherited blood disorders in the world and a major deterrent to the public health of Bangladesh. The management of thalassemia patients requires lifelong frequent blood ...

    Authors: Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri and Kaiissar Mannoor

    Citation: Orphanet Journal of Rare Diseases 2020 15:15

    Content type: Research

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  43. Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especia...

    Authors: Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi and Sirous Zeinali

    Citation: Orphanet Journal of Rare Diseases 2020 15:14

    Content type: Research

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  44. Myasthenia gravis is a rare autoimmune neuromuscular disorder. The disorder requires long-term use of expensive medication to control clinical symptoms. This study analyzed the change in trends of total medica...

    Authors: Tao-yu Lin, Xiao-yan Zhang, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:13

    Content type: Research

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  45. Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....

    Authors: Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler…

    Citation: Orphanet Journal of Rare Diseases 2020 15:12

    Content type: Review

    Published on: