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  1. Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to ...

    Authors: Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman and Joost P. H. Drenth

    Citation: Orphanet Journal of Rare Diseases 2020 15:302

    Content type: Research

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  2. Achondroplasia is the most common dwarfing disorder. It can result in a variety of sequelae, including neurologic complications, among which high cervical myelopathy is one of particular concern. However, some...

    Authors: Cory J. Smid, Janet M. Legare, Peggy Modaff and Richard M. Pauli

    Citation: Orphanet Journal of Rare Diseases 2020 15:301

    Content type: Research

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  3. Aortic root dilatation and—dissection and mitral valve prolapse are established cardiovascular manifestations in Marfan syndrome (MFS). Heart failure and arrhythmic sudden cardiac death have emerged as additio...

    Authors: Laura Muiño-Mosquera, Hans De Wilde, Daniel Devos, Danilo Babin, Luc Jordaens, Anthony Demolder, Katya De Groote, Daniel De Wolf and Julie De Backer

    Citation: Orphanet Journal of Rare Diseases 2020 15:300

    Content type: Research

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  4. Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature.

    Authors: Michael Karremann, Eva Neumaier-Probst, Frank Schlichtenbrede, Fabian Beier, Tim H. Brümmendorf, Friedrich W. Cremer, Peter Bader and Matthias Dürken

    Citation: Orphanet Journal of Rare Diseases 2020 15:299

    Content type: Review

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  5. The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. T...

    Authors: Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente…

    Citation: Orphanet Journal of Rare Diseases 2020 15:298

    Content type: Research

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  6. A strong correlation was previously found between mean platelet volume (MPV), red blood cell distribution width (RDW), and the severity of signs and symptoms in patients suffering from inflammatory and autoimm...

    Authors: Maryam Masoumi, Soraya Shadmanfar, Fereydoun Davatchi, Farhad Shahram, Massoomeh Akhlagi, Tahereh Faezi, Hoda Kavosi, Soroush Moradi and Javad Balasi

    Citation: Orphanet Journal of Rare Diseases 2020 15:297

    Content type: Research

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  7. Pain is an early symptom of Fabry disease (FD) and is characterized by a unique phenotype with mainly episodic acral and triggerable burning pain. Recently, we designed and validated the first pain questionnai...

    Authors: Ana Jovanovic, Philipp Klassen, Peter Heuschmann, Claudia Sommer, Mark Roberts and Nurcan Üçeyler

    Citation: Orphanet Journal of Rare Diseases 2020 15:296

    Content type: Research

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  8. Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular disease characterized by a heterogeneous clinical presentation and prognosis. Dietary evaluation is relevant in HHT patients to...

    Authors: Federica Cavalcoli, Alberto Gandini, Irene Aglaia Matelloni, Francesca Catalano, Saverio Alicante, Guido Manfredi, Gianfranco Brambilla, Fernanda Menozzi, Federica Perolini, Egon Costi, Roberto Bertè and Elisabetta Buscarini

    Citation: Orphanet Journal of Rare Diseases 2020 15:295

    Content type: Research

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  9. MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in t...

    Authors: Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf and Alma Kuechler

    Citation: Orphanet Journal of Rare Diseases 2020 15:294

    Content type: Research

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  10. Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring l...

    Authors: Sarah Berrocoso, Imanol Amayra, Esther Lázaro, Oscar Martínez, Juan Francisco López-Paz, Maitane García, Manuel Pérez, Mohammad Al-Rashaida, Alicia Aurora Rodríguez, Paula Maria Luna, Paula Pérez-Núñez, Raquel Blanco and Julián Nevado

    Citation: Orphanet Journal of Rare Diseases 2020 15:293

    Content type: Research

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  11. Hereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes involved in the maintenance of the structural and functional integrity of de...

    Authors: Verena Wally, Manuela Reisenberger, Sophie Kitzmüller and Martin Laimer

    Citation: Orphanet Journal of Rare Diseases 2020 15:292

    Content type: Review

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  12. In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate ...

    Authors: Ana Requena-Méndez, Zeno Bisoffi, Joan-Lluis Vives-Corrons, Joaquim Gascon and Antoni Plasència

    Citation: Orphanet Journal of Rare Diseases 2020 15:291

    Content type: Position statement

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  13. Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations o...

    Authors: Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs and Kálmán Benke

    Citation: Orphanet Journal of Rare Diseases 2020 15:290

    Content type: Research

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  14. Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mut...

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

    Citation: Orphanet Journal of Rare Diseases 2020 15:289

    Content type: Research

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  15. International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these dis...

    Authors: Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano…

    Citation: Orphanet Journal of Rare Diseases 2020 15:187

    Content type: Research

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  16. Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics...

    Authors: Wen Tian, Yingzhao Huang, Liying Sun, Yang Guo, Sen Zhao, Mao Lin, Xiying Dong, Wenyao Zhong, Yuehan Yin, Zefu Chen, Nan Zhang, Yuanqiang Zhang, Lianlei Wang, Jiachen Lin, Zihui Yan, Xinzhuang Yang…

    Citation: Orphanet Journal of Rare Diseases 2020 15:288

    Content type: Research

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  17. Transthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited disease affecting multiple organ systems. ATTR-FAP patients’ experiences have rarely been documented. The aim of ...

    Authors: Fabian J. Bolte, Christel Langenstroer, Frauke Friebel, Anna Hüsing-Kabar, Martin Dugas and Hartmut H. Schmidt

    Citation: Orphanet Journal of Rare Diseases 2020 15:287

    Content type: Research

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  18. Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay...

    Authors: Zahra Beyzaei, Bita Geramizadeh and Sara Karimzadeh

    Citation: Orphanet Journal of Rare Diseases 2020 15:286

    Content type: Review

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  19. Rosai–Dorfman disease (RDD) and IgG4-related (IgG4-RD) disease are both rare diseases, but in some cases, RDD mimics IgG4-RD clinically and pathologically. RDD mimicking IgG4-RDs (RDD mimic IgG4-RD), referring...

    Authors: Li Wang, Wei Li, Shangzhu Zhang, Linyi Peng, Min Shen, Shuoning Song, Wei Zhang, Xinxin Cao, Ruie Feng and Wen Zhang

    Citation: Orphanet Journal of Rare Diseases 2020 15:285

    Content type: Research

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  20. It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-r...

    Authors: Tama Dinur, Majdolen Istaiti, Dafna Frydman, Michal Becker-Cohen, Jeff Szer, Ari Zimran and Shoshana Revel-Vilk

    Citation: Orphanet Journal of Rare Diseases 2020 15:284

    Content type: Research

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  21. Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze pos...

    Authors: Lucy Magill, Constanze Laemmer, Joachim Woelfle, Rolf Fimmers and Bettina Gohlke

    Citation: Orphanet Journal of Rare Diseases 2020 15:283

    Content type: Research

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  22. Each rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease repres...

    Authors: Xuefeng Li, Zijuan Lu, Jianyong Zhang, Xiangyu Zhang, Shu Zhang, Jincheng Zhou, Bingzhe Li and Li Ou

    Citation: Orphanet Journal of Rare Diseases 2020 15:282

    Content type: Research

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  23. Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure. Also, the predictors for ...

    Authors: Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä and Kalle Kurppa

    Citation: Orphanet Journal of Rare Diseases 2020 15:281

    Content type: Research

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  24. Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of th...

    Authors: Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley and Javier Corral

    Citation: Orphanet Journal of Rare Diseases 2020 15:280

    Content type: Research

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  26. The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for...

    Authors: Hedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, Ole B. Suhr, Intissar Anan, Elisabet Ihse, Björn Pilebro and Jonas Wixner

    Citation: Orphanet Journal of Rare Diseases 2020 15:278

    Content type: Research

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  27. The reimbursement of orphan drugs (OD) is an increasingly important for country policymakers, and still insufficiently understood, especially in Central and Eastern Europe. The aim of this research was to prov...

    Authors: Krzysztof Piotr Malinowski, Paweł Kawalec, Wojciech Trąbka, Christoph Sowada, Guenka Petrova, Manoela Manova, Alexandra Savova, Pero Draganić, Juraj Slabý, Agnes Männik, Kristóf Márky, Zinta Rugaja, Jolanta Gulbinovic, Tomas Tesar and Marian Sorin Paveliu

    Citation: Orphanet Journal of Rare Diseases 2020 15:277

    Content type: Research

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  28. Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal...

    Authors: Mengyao Dai, Bing Xiao, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Hong Zhu, Lei Wang, Lili Liang, Xia Zhan, Wenjun Ji, Yu Wang, Yongguo Yu, Xuefan Gu and Lianshu Han

    Citation: Orphanet Journal of Rare Diseases 2020 15:276

    Content type: Research

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  29. Challenging behavior represents a core symptom in neuropathological mucopolysaccharidoses (MPS) and puts major strain on affected families. Although multimodal approaches including behavioral strategies to tre...

    Authors: Frederik Hoffmann, Susanne Hoffmann, Kevin Kunzmann and Markus Ries

    Citation: Orphanet Journal of Rare Diseases 2020 15:275

    Content type: Review

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  30. Patients with hereditary fructose intolerance need to follow a life-long fructose dietary and drug restriction to prevent symptoms of intoxication. Concerns about vaccines administration have been manifested o...

    Authors: Arianna Maiorana, Antonella Sabia, Tiziana Corsetti and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2020 15:274

    Content type: Letter to the Editor

    Published on:

  31. Vitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. The objectives of this study were twofold: (1) to analyze the clinical c...

    Authors: Yunfei Li, Xin Yuan, Ruimin Chen, Xiangquan Lin, Huakun Shangguan, Xiaohong Yang and Ying Zhang

    Citation: Orphanet Journal of Rare Diseases 2020 15:273

    Content type: Research

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  32. Anti-granulocyte–macrophage colony-stimulating factor autoantibody (GMAb) has been recognized as a diagnostic biomarker for autoimmune pulmonary alveolar proteinosis (aPAP). The aims of this study were to know...

    Authors: Kanako Katayama, Masaki Hirose, Toru Arai, Kazuyoshi Hatsuda, Kazunobu Tachibana, Reiko Sugawara, Chikatoshi Sugimoto, Takahiko Kasai, Masanori Akira and Yoshikazu Inoue

    Citation: Orphanet Journal of Rare Diseases 2020 15:272

    Content type: Research

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  33. Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness dat...

    Authors: Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska and Nicole M. Muschol

    Citation: Orphanet Journal of Rare Diseases 2020 15:271

    Content type: Research

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  34. Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden. Quebec, Canada has a large Morquio A population, which is consider...

    Authors: Lina Moisan, David Iannuzzi, Bruno Maranda, Philippe M. Campeau and John J. Mitchell

    Citation: Orphanet Journal of Rare Diseases 2020 15:270

    Content type: Research

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  35. Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Symptoms include hepatosplenomegaly, vertical s...

    Authors: A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai, K. Tsutsui, N. Sakai, K. Eto, A. Noguchi, T. Shimizu, T. Takahashi, G. Han, K. Mishima, T. Kanbayashi and H. Kondo

    Citation: Orphanet Journal of Rare Diseases 2020 15:269

    Content type: Research

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  37. Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). The g...

    Authors: Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland and Conrad C. Weihl

    Citation: Orphanet Journal of Rare Diseases 2020 15:267

    Content type: Research

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  38. Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with ...

    Authors: Tracy Brock Lowe, Jane DeLuca and Georgianne L. Arnold

    Citation: Orphanet Journal of Rare Diseases 2020 15:266

    Content type: Review

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  39. South Asia is the hotspot of beta-thalassemia, with an estimated 200,000 patients whose lives depend on regular blood transfusion. Due to COVID-19 pandemic, many countries have adopted unprecedented lockdown t...

    Authors: Mohammad Sorowar Hossain, Enayetur Raheem and Mahbubul H. Siddiqee

    Citation: Orphanet Journal of Rare Diseases 2020 15:265

    Content type: Letter to the Editor

    Published on:

  40. We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, mTOR inhibitor use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with doc...

    Authors: William Ching-Yuen Chu, Lorraine Lok-Wing Chiang, Dorothy Chi-Ching Chan, Wilfred Hing-Sang Wong and Godfrey Chi-Fung Chan

    Citation: Orphanet Journal of Rare Diseases 2020 15:264

    Content type: Research

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  41. Rare Diseases (RDs), which are defined as diseases affecting no more than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem is the delay in diagnosing RDs. Clinical decisio...

    Authors: Jannik Schaaf, Martin Sedlmayr, Johanna Schaefer and Holger Storf

    Citation: Orphanet Journal of Rare Diseases 2020 15:263

    Content type: Review

    Published on:

  42. How to address the counseling of lifetime risk of developing Parkinson’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In...

    Authors: Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio and Generoso Andria

    Citation: Orphanet Journal of Rare Diseases 2020 15:262

    Content type: Position statement

    Published on:

  43. Previous work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD)....

    Authors: Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet and K. Michael Gibson

    Citation: Orphanet Journal of Rare Diseases 2020 15:261

    Content type: Research

    Published on:

  44. There are limited data on economic aspects of the genetic variant of chronic obstructive pulmonary disease (COPD) in the context of the more prevalent form of COPD. The objective of this study was to isolate t...

    Authors: Jan Sieluk, Julia F. Slejko, Henry Silverman, Eleanor Perfetto and C. Daniel Mullins

    Citation: Orphanet Journal of Rare Diseases 2020 15:260

    Content type: Research

    Published on:

  45. Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) can lead to severe ophthalmologic sequelae. The main risk factor is the severity of the initial ocular involvement. There are no recommendati...

    Authors: D. Thorel, S. Ingen-Housz-Oro, G. Royer, A. Delcampe, N. Bellon, C. Bodemer, A. Welfringer-Morin, D. Bremond-Gignac, M. P. Robert, M. Tauber, F. Malecaze, O. Dereure, V. Daien, A. Colin, C. Bernier, C. Couret…

    Citation: Orphanet Journal of Rare Diseases 2020 15:259

    Content type: Position statement

    Published on:

  46. PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mann...

    Authors: Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt

    Citation: Orphanet Journal of Rare Diseases 2020 15:258

    Content type: Research

    Published on:

  47. Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and ...

    Authors: Yang Cao, Shuang Liu and Yuxiang Zhi

    Citation: Orphanet Journal of Rare Diseases 2020 15:257

    Content type: Research

    Published on:

  48. Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the iden...

    Authors: Marcio M. Andrade-Campos, Laura López de Frutos, Jorge J. Cebolla, Irene Serrano-Gonzalo, Blanca Medrano-Engay, Mercedes Roca-Espiau, Beatriz Gomez-Barrera, Jorge Pérez-Heredia, David Iniguez and Pilar Giraldo

    Citation: Orphanet Journal of Rare Diseases 2020 15:256

    Content type: Research

    Published on:

  49. Lymphangioleiomyomatosis (LAM) is a rare and progressive cystic lung disease with limited therapeutic options. We retrospectively analyzed the effects of a comprehensive 4-week inpatient pulmonary rehabilitati...

    Authors: Rainer Gloeckl, Christoph Nell, Tessa Schneeberger, Inga Jarosch, Martina Boensch, Henrik Watz, Hubert Wirtz, Tobias Welte, Klaus Kenn and Andreas Rembert Koczulla

    Citation: Orphanet Journal of Rare Diseases 2020 15:255

    Content type: Letter to the Editor

    Published on:

  50. Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a le...

    Authors: Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender and Gaëtan Lesca

    Citation: Orphanet Journal of Rare Diseases 2020 15:254

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172