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  1. A guide of patient selection for establishing the diagnosis of lymphangioleiomyomatosis (LAM) by transbronchial lung biopsy (TBLB) has not been established, although the pathological confirmation of LAM by lun...

    Authors: Shouichi Okamoto, Kazuhiro Suzuki, Takuo Hayashi, Keiko Muraki, Tetsutaro Nagaoka, Koichi Nishino, Yasuhito Sekimoto, Shinichi Sasaki, Kazuhisa Takahashi and Kuniaki Seyama

    Citation: Orphanet Journal of Rare Diseases 2020 15:125

    Content type: Research

    Published on:

  2. Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula...

    Authors: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer and Susanne Pitz

    Citation: Orphanet Journal of Rare Diseases 2020 15:124

    Content type: Research

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  3. Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-...

    Authors: Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum

    Citation: Orphanet Journal of Rare Diseases 2020 15:123

    Content type: Research

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  4. Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key...

    Authors: Hirotsugu Maekawa, Shunsuke Kawai, Megumi Nishio, Sanae Nagata, Yonghui Jin, Hiroyuki Yoshitomi, Shuichi Matsuda and Junya Toguchida

    Citation: Orphanet Journal of Rare Diseases 2020 15:122

    Content type: Research

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  5. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disease characterized by uterovaginal agenesis. The diagnosis of MRKH syndrome generally leads to considerable emotional burdens on patients....

    Authors: Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan and Lan Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:121

    Content type: Research

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  6. Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple...

    Authors: C. Daccord, V. Cottin, G. Prévot, Y. Uzunhan, J. F. Mornex, P. Bonniaud, R. Borie, A. Briault, M. A. Collonge-Rame, B. Crestani, G. Devouassoux, O. Freynet, A. Gondouin, P. A. Hauss, C. Khouatra, S. Leroy…

    Citation: Orphanet Journal of Rare Diseases 2020 15:120

    Content type: Research

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  7. Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degener...

    Authors: Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories and Amets Sáenz

    Citation: Orphanet Journal of Rare Diseases 2020 15:119

    Content type: Research

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  8. Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this...

    Authors: Ilse Peterson, Rosángel Cruz, Fatou Sarr, Ann Marie Stanley and Jill Jarecki

    Citation: Orphanet Journal of Rare Diseases 2020 15:118

    Content type: Position statement

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  9. Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little ...

    Authors: Gerda Mickute, Kristina Staley, Heather Delaney, Oliver Gardiner, Amy Hunter, Richard Keen, Lorraine Lockhart, Nick Meade, Maria Newman, Stuart Ralston, Elaine Rush, Sheela Upadhyaya, Sandra Regan, Laura Watts, Jennifer Walsh, Paul White…

    Citation: Orphanet Journal of Rare Diseases 2020 15:117

    Content type: Research

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  10. Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome involving multisystem. Optic disc edema (ODE) is the most common ocular m...

    Authors: Ling-shan Liu, Xiao Zhang, Hao Zhao, Xue-min Gao, Dao-bin Zhou, Rong-ping Dai and Jian Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:116

    Content type: Research

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  12. Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as pat...

    Authors: Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze and Christina Lampe

    Citation: Orphanet Journal of Rare Diseases 2020 15:114

    Content type: Research

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  13. Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-relate...

    Authors: Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling and Joshua J. Todd

    Citation: Orphanet Journal of Rare Diseases 2020 15:113

    Content type: Review

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  14. Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disor...

    Authors: Jia Zhang, Yuan Sun, Xiaodong Shi, Rui Zhang, Yini Wang, Juan Xiao, Jing Cao, Zhuo Gao, Jingshi Wang, Lin Wu, Wei Wei and Zhao Wang

    Citation: Orphanet Journal of Rare Diseases 2020 15:112

    Content type: Research

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  15. Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in l...

    Authors: Nantiya Mongkollarp, Thipwimol Tim-Aroon, Chusak Okascharoen, Khunton Wichajarn, Jeeraparn Phosuwattanakul, Nalinee Chongviriyaphan and Duangrurdee Wattanasirichaigoon

    Citation: Orphanet Journal of Rare Diseases 2020 15:111

    Content type: Research

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  16. The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reum...

    Authors: Cristina Ponte, Nikita Khmelinskii, Vítor Teixeira, Karine Luz, Daniela Peixoto, Marília Rodrigues, Mariana Luís, Lídia Teixeira, Sandra Sousa, Nathalie Madeira, Joana A. Aleixo, Teresa Pedrosa, Sofia Serra, Raquel Campanilho-Marques, Walter Castelão, Ana Cordeiro…

    Citation: Orphanet Journal of Rare Diseases 2020 15:110

    Content type: Research

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  17. Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-...

    Authors: Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem and Fowzan S. Alkuraya

    Citation: Orphanet Journal of Rare Diseases 2020 15:109

    Content type: Research

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  18. Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF

    Authors: Meng Ren, Jingru Shi, Jinmeng Jia, Yongli Guo, Xin Ni and Tieliu Shi

    Citation: Orphanet Journal of Rare Diseases 2020 15:108

    Content type: Research

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  19. Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal v...

    Authors: Katie Kerr, Helen McAneney, Laura J. Smyth, Caitlin Bailie, Shane McKee and Amy Jayne McKnight

    Citation: Orphanet Journal of Rare Diseases 2020 15:107

    Content type: Review

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  21. Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case st...

    Authors: Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson and Janneke G. Langendonk

    Citation: Orphanet Journal of Rare Diseases 2020 15:105

    Content type: Research

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  22. Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characterized by progressive neurodegeneration and premature death. We report data at closure of the NPC Registry that descr...

    Authors: Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg and Mercedes Pineda

    Citation: Orphanet Journal of Rare Diseases 2020 15:104

    Content type: Research

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  23. The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinic...

    Authors: Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz…

    Citation: Orphanet Journal of Rare Diseases 2020 15:103

    Content type: Research

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  24. Inherited endocrine tumors are neoplasms of endocrine cells, transmitted via autosomal dominant germinal mutations. They present in two different forms: non-syndromic (patient has a single affected endocrine o...

    Authors: Davide Maraghelli, Francesca Giusti, Francesca Marini and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2020 15:102

    Content type: Review

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  25. Rubinstein–Taybi syndrome (RTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Previous studies have reported that large deletions contribute to more severe RTS phenotypes than thos...

    Authors: Yueheng Wu, Yu Xia, Ping Li, Hui-Qi Qu, Yichuan Liu, Yongchao Yang, Jijin Lin, Meng Zheng, Lifeng Tian, Zhuanbin Wu, Shufang Huang, Xianyu Qin, Xianwu Zhou, Shaoxian Chen, Yanying Liu, Yonghua Wang…

    Citation: Orphanet Journal of Rare Diseases 2020 15:101

    Content type: Research

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  26. Wolcott-Rallison syndrome (WRS) is characterized by permanent early-onset diabetes, skeletal dysplasia and several additional features, e.g. recurrent liver failure. This is the first multicentre approach that...

    Authors: Alena Welters, Thomas Meissner, Katja Konrad, Clemens Freiberg, Katharina Warncke, Sylvia Judmaier, Olga Kordonouri, Michael Wurm, Matthias Papsch, Gisela Fitzke, Silke Christina Schmidt, Sascha R. Tittel and Reinhard W. Holl

    Citation: Orphanet Journal of Rare Diseases 2020 15:100

    Content type: Research

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  27. Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) availability has ...

    Authors: Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello and Daniela Melis

    Citation: Orphanet Journal of Rare Diseases 2020 15:99

    Content type: Research

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  28. Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause o...

    Authors: Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao and Xiaoqing Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:98

    Content type: Research

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  29. The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision,...

    Authors: Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2020 15:97

    Content type: Review

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  30. Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving t...

    Authors: Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman and Adam Wanner

    Citation: Orphanet Journal of Rare Diseases 2020 15:96

    Content type: Review

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  31. Castleman disease (CD) is a rare non-malignant lymphoproliferation of undetermined origin. Two major disease phenotypes can be distinguished: unicentric CD (UCD) and multicentric CD (MCD). Diagnosis confirmati...

    Authors: Charlotte Borocco, Claire Ballot-Schmit, Oanez Ackermann, Nathalie Aladjidi, Jeremie Delaleu, Vannina Giacobbi-Milet, Sarah Jannier, Eric Jeziorski, François Maurier, Yves Perel, Christophe Piguet, Eric Oksenhendler, Isabelle Koné-Paut and Caroline Galeotti

    Citation: Orphanet Journal of Rare Diseases 2020 15:95

    Content type: Research

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  32. Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers. Consequently, computerized diagn...

    Authors: Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier and Anita Burgun

    Citation: Orphanet Journal of Rare Diseases 2020 15:94

    Content type: Review

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  33. Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe m...

    Authors: Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio and Gianvincenzo Zuccotti

    Citation: Orphanet Journal of Rare Diseases 2020 15:93

    Content type: Research

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  34. The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) ge...

    Authors: Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer and Alaa Hamed

    Citation: Orphanet Journal of Rare Diseases 2020 15:92

    Content type: Research

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  35. Clinical evidence suggests that the currently recommended approach to estimate the risk of aortic dissection in Marfan syndrome (MFS) is not reliable enough. Therefore, we investigated the possible role of vis...

    Authors: Bence Ágg, Bálint Szilveszter, Noémi Daradics, Kálmán Benke, Roland Stengl, Márton Kolossváry, Miklós Pólos, Tamás Radovits, Péter Ferdinandy, Béla Merkely, Pál Maurovich-Horvat and Zoltán Szabolcs

    Citation: Orphanet Journal of Rare Diseases 2020 15:91

    Content type: Research

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  36. Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gen...

    Authors: Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede and Claude Desnuelle

    Citation: Orphanet Journal of Rare Diseases 2020 15:90

    Content type: Research

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  37. The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims...

    Authors: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen…

    Citation: Orphanet Journal of Rare Diseases 2020 15:89

    Content type: Research

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  38. Respiratory muscle weakness is an important feature of spinal muscular atrophy (SMA). Progressive lung function decline is the most important cause of mortality and morbidity in patients. The natural history o...

    Authors: Camiel A. Wijngaarde, Esther S. Veldhoen, Ruben P. A. van Eijk, Marloes Stam, Louise A. M. Otto, Fay-Lynn Asselman, Roelie M. Wösten-van Asperen, Erik H. J. Hulzebos, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Inge Cuppen, Renske I. Wadman, Leonard H. van den Berg, Cornelis K. van der Ent and W. Ludo van der Pol

    Citation: Orphanet Journal of Rare Diseases 2020 15:88

    Content type: Research

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  39. Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden...

    Authors: Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter

    Citation: Orphanet Journal of Rare Diseases 2020 15:87

    Content type: Research

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  40. Oral migalastat has recently been approved for the treatment of Anderson-Fabry disease (FD) in patients aged ≥16 years with amenable mutations on the basis of two phase III trials, FACETS and ATTRACT. However,...

    Authors: Cristina Chimenti, Patrizia Nencini, Federico Pieruzzi, Sandro Feriozzi, Renzo Mignani, Maurizio Pieroni and Antonio Pisani

    Citation: Orphanet Journal of Rare Diseases 2020 15:86

    Content type: Position statement

    Published on:

  41. Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endoso...

    Authors: Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier…

    Citation: Orphanet Journal of Rare Diseases 2020 15:85

    Content type: Research

    Published on:

  42. The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies using structured assessments in type I however are ver...

    Authors: Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb and Richard S. Finkel

    Citation: Orphanet Journal of Rare Diseases 2020 15:84

    Content type: Review

    Published on:

  43. Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the aci...

    Authors: P. Vanherpe, S. Fieuws, A. D’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt and K. G. Claeys

    Citation: Orphanet Journal of Rare Diseases 2020 15:83

    Content type: Research

    Published on:

  44. This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (T...

    Authors: Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen and M. Rebecca Heiner-Fokkema

    Citation: Orphanet Journal of Rare Diseases 2020 15:82

    Content type: Research

    Published on:

  45. Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of ...

    Authors: David Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elena Losada, Andrés E. Muy-Pérez, Blanca González-Méndez and Sofía Sánchez-Iglesias

    Citation: Orphanet Journal of Rare Diseases 2020 15:81

    Content type: Research

    Published on:

  46. Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causativ...

    Authors: Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan and Göran Dahllöf

    Citation: Orphanet Journal of Rare Diseases 2020 15:80

    Content type: Research

    Published on:

  47. Following the publication of the original article [1], the authors have requested to amend the Abstract and Discussion section as follows.

    Authors: Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar and Margarita López-Trascasa

    Citation: Orphanet Journal of Rare Diseases 2020 15:79

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:9

  48. To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations.

    Authors: Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang and Zhixian Yang

    Citation: Orphanet Journal of Rare Diseases 2020 15:78

    Content type: Research

    Published on:

  49. The original version of this article [1] unfortunately included an error to an author’s name. Author Manuela Schubert Baldo was erroneously presented as Manuela Baldo Schubert.

    Authors: Manuela Schubert Baldo and Laura Vilarinho

    Citation: Orphanet Journal of Rare Diseases 2020 15:77

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:31

  50. Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. The complexity and d...

    Authors: Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge-Lot Klein, Mirian C. H. Janssen, Jan A. M. Smeitink and Christianne M. Verhaak

    Citation: Orphanet Journal of Rare Diseases 2020 15:76

    Content type: Research

    Published on:

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172