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  1. Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for particular GBA mutations in Ashkenazi Jewish and French-Canad...

    Authors: Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo and Han-Wook Yoo

    Citation: Orphanet Journal of Rare Diseases 2020 15:318

    Content type: Research

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  2. Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. In this study, we described the diagnost...

    Authors: Liling Lin, Ying Zhang, Hong Pan, Jingmin Wang, Yu Qi and Yinan Ma

    Citation: Orphanet Journal of Rare Diseases 2020 15:317

    Content type: Research

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  3. Many people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside relate...

    Authors: Julie McMullan, Ashleen L. Crowe, Caitlin Bailie, Kerry Moore, Lauren S. McMullan, Nahid Shamandi, Helen McAneney and Amy Jayne McKnight

    Citation: Orphanet Journal of Rare Diseases 2020 15:315

    Content type: Research

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  4. Mucopolysaccharidoses (MPSs) are a group of inherited metabolic diseases, which are characterized by the accumulation of glycosaminoglycans, and eventually lead to the progressive damage of various tissues and...

    Authors: Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2020 15:314

    Content type: Research

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  5. There are no cohort studies of chronic lymphedema in patients with kaposiform hemangioendothelioma (KHE). We sought to characterize the incidence, clinical features, risk factors and management of chronic lymp...

    Authors: Yi Ji, Siyuan Chen, Chuncao Xia, Jiangyuan Zhou, Xian Jiang, Xuewen Xu, Kaiying Yang, Xuepeng Zhang, Feiteng Kong, Guoyan Lu and Yongbo Zhang

    Citation: Orphanet Journal of Rare Diseases 2020 15:313

    Content type: Research

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  6. Mandible osteomyelitis can occur in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare chronic inflammatory disease; however, few studies have explored its characteristics and man...

    Authors: Mu Wang, Yueting Li, Yihan Cao, Xinyu Lu, Yuchen Liu, Jizhi Zhao, Wen Zhang and Chen Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:312

    Content type: Research

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  7. To ascertain the number of paediatric deaths (0–14 years) with an underlying rare disease in the Republic of Ireland between the years 2006–2016, and to analyse bed usage by a paediatric cohort of rare disease...

    Authors: Emer Gunne, Cliona McGarvey, Karina Hamilton, Eileen Treacy, Deborah M. Lambert and Sally Ann Lynch

    Citation: Orphanet Journal of Rare Diseases 2020 15:311

    Content type: Research

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  8. Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochond...

    Authors: Ana Vitoria Barban Margutti, Wilson Araújo Silva Jr., Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza…

    Citation: Orphanet Journal of Rare Diseases 2020 15:309

    Content type: Research

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  9. Rare diseases (RDs) in rheumatology as a group have a high prevalence, but randomized controlled trials are hampered by their heterogeneity and low individual prevalence. To survey the current evidence of phar...

    Authors: Tim T. A. Bender, Judith Leyens, Julia Sellin, Dmitrij Kravchenko, Rupert Conrad, Martin Mücke and Matthias F. Seidel

    Citation: Orphanet Journal of Rare Diseases 2020 15:308

    Content type: Review

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  10. For patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients’ accessibility to timely treatment. Yet, little is known about the main factors that...

    Authors: Dong Dong, Roger Yat-Nork Chung, Rufina H. W. Chan, Shiwei Gong and Richard Huan Xu

    Citation: Orphanet Journal of Rare Diseases 2020 15:307

    Content type: Research

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  11. We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propion...

    Authors: Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini and Amelia Morrone

    Citation: Orphanet Journal of Rare Diseases 2020 15:306

    Content type: Letter to the Editor

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  12. A parachute tricuspid valve is a very rare congenital cardiac anomaly. Its morphological features and clinical implications have not been sufficiently described so far. The purpose of the present systematic re...

    Authors: Shi-Min Yuan

    Citation: Orphanet Journal of Rare Diseases 2020 15:305

    Content type: Review

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  13. The development of multicenter patient registries promotes the generation of scientific knowledge by using real-world data. A country-wide, web-based registry for inherited retinal dystrophies (IRDs) empowers ...

    Authors: João Pedro Marques, Ana Luísa Carvalho, José Henriques, Joaquim Neto Murta, Jorge Saraiva and Rufino Silva

    Citation: Orphanet Journal of Rare Diseases 2020 15:304

    Content type: Research

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  14. Fabry disease is a rare inherited glycosphingolipid storage disorder caused by deleterious mutations in the GLA gene coding for the lysosomal enzyme α-galactosidase A. The glucosylceramide synthase inhibitor luce...

    Authors: Markus S. Mueller, Patricia N. Sidharta, Christine Voors-Pette, Borje Darpo, Hongqi Xue and Jasper Dingemanse

    Citation: Orphanet Journal of Rare Diseases 2020 15:303

    Content type: Research

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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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: Original Research

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  43. 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

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  44. 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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  45. 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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  46. 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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  47. 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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