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  1. Neurofibromatosis 1 (NF1) is an inherited, autosomal-dominant, tumor predisposition syndrome with a birth incidence as high as 1:2000. A patient with NF1 is four to five times more likely to develop a malignan...

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

    Citation: Orphanet Journal of Rare Diseases 2021 16:230

    Content type: Letter to the Editor

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  2. Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-target...

    Authors: Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2021 16:229

    Content type: Research

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  3. Bullous pemphigoid (BP) is the most common autoimmune skin blistering disease characterized by autoimmunity against the hemidesmosomal proteins BP180, type XVII collagen, and BP230. To elucidate the genetic ba...

    Authors: Christian Schwarm, Damian Gola, Maike M. Holtsche, Anabelle Dieterich, Anita Bhandari, Miriam Freitag, Peter Nürnberg, Mohammad Toliat, Wolfgang Lieb, Michael Wittig, André Franke, Margitta Worm, Michael Sticherling, Jan Ehrchen, Claudia Günther, Regine Gläser…

    Citation: Orphanet Journal of Rare Diseases 2021 16:228

    Content type: Letter to the Editor

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  4. Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was s...

    Authors: Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel and Florian S. Eichler

    Citation: Orphanet Journal of Rare Diseases 2021 16:227

    Content type: Research

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  5. Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine...

    Authors: Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Francisco Arrieta, Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide and Mercedes Martínez-Pardo

    Citation: Orphanet Journal of Rare Diseases 2021 16:226

    Content type: Letter to the Editor

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  6. Relapsing polychondritis (RPC) is a rare autoimmune disease and its early diagnosis remains challenging. Defining the clinical patterns and disease course may help early recognition of RPC.

    Authors: Lei Zhang, Shuang Yun, Tiange Wu, Yujie He, Jinyan Guo, Lishuai Han, Jiameng Lu, Xiaojun Liu, Rui Yang, Shitao Zhang, Tianfang Li and Shengyun Liu

    Citation: Orphanet Journal of Rare Diseases 2021 16:225

    Content type: Research

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  7. Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disorder caused by biallelic mutation of ACAT1 that affects both isoleucine catabolism and ketolysis. There is little information available regarding ...

    Authors: Yiming Lin, Zhantao Yang, Chiju Yang, Haili Hu, Haiyan He, Tingting Niu, Mingfang Liu, Dongjuan Wang, Yun Sun, Yuyan Shen, Xiaole Li, Huiming Yan, Yuanyuan Kong and Xinwen Huang

    Citation: Orphanet Journal of Rare Diseases 2021 16:224

    Content type: Research

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  9. Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The pro...

    Authors: Ana B. Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuñiga, Francisco J. Diaz-Corrales and Berta de la Cerda

    Citation: Orphanet Journal of Rare Diseases 2021 16:222

    Content type: Review

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  10. Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponas...

    Authors: J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout and H. H. Huidekoper

    Citation: Orphanet Journal of Rare Diseases 2021 16:221

    Content type: Research

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  11. Chronic kidney disease (CKD) is one of the main long-term prognosis factors in methylmalonic acidemia (MMA), a rare disease of propionate catabolism. Our objective was to precisely address the clinical and bio...

    Authors: Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay and Aude Servais

    Citation: Orphanet Journal of Rare Diseases 2021 16:220

    Content type: Research

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  12. Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual ...

    Authors: Miriam Kessi, Baiyu Chen, Jing Peng, Fangling Yan, Lifen Yang and Fei Yin

    Citation: Orphanet Journal of Rare Diseases 2021 16:219

    Content type: Review

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  13. In the absence of a framework designed to evaluate medicines for rare diseases in the UK, most orphan medicines are appraised by the National Institute for Health and Care Excellence (NICE) through the Single ...

    Authors: Sophie Clarke, Michelle Ellis and Jack Brownrigg

    Citation: Orphanet Journal of Rare Diseases 2021 16:218

    Content type: Research

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  14. Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative cond...

    Authors: Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen…

    Citation: Orphanet Journal of Rare Diseases 2021 16:217

    Content type: Research

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  15. Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. Even though over 90%...

    Authors: Robert Waltereit, Guillaume Beaure d’Augères, Jasna Jancic, John Chris Kingswood, Maya Koleva, Ruben Marques, Vicente Villanueva and Stéphane Auvin

    Citation: Orphanet Journal of Rare Diseases 2021 16:216

    Content type: Research

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  16. Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominentl...

    Authors: Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele and Esther M. Maier

    Citation: Orphanet Journal of Rare Diseases 2021 16:215

    Content type: Research

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  17. Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with se...

    Authors: Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun and Tao Jiang

    Citation: Orphanet Journal of Rare Diseases 2021 16:214

    Content type: Research

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  19. Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal stud...

    Authors: Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang and M. Judith Peterschmitt

    Citation: Orphanet Journal of Rare Diseases 2021 16:212

    Content type: Research

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  20. Rare and severe neurological disorders in childhood not only heavily affect the life perspective of the patients, but also their caregivers and families. The aim of this study was to investigate the impact of ...

    Authors: Louisa Ammann-Schnell, Samuel Groeschel, Christiane Kehrer, Saskia Frölich and Ingeborg Krägeloh-Mann

    Citation: Orphanet Journal of Rare Diseases 2021 16:211

    Content type: Research

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  21. Although clinician, researcher, and patient resources for matchmaking exist, finding similar patients remains an obstacle for rare disease diagnosis. The goals of this study were to develop and test the effect...

    Authors: Kimberly LeBlanc, Emily G. Kelley, Anna Nagy, Jorick Bater, Tala Berro, Molly A. McGuinness, Courtney Studwell and Matthew Might

    Citation: Orphanet Journal of Rare Diseases 2021 16:210

    Content type: Research

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  23. Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause ...

    Authors: Shengcai Wang, Wei Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, Nian Sun, Zhiyong Liu, Jiangnan Du, Jun Tai and Xin Ni

    Citation: Orphanet Journal of Rare Diseases 2021 16:208

    Content type: Research

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  24. The incidence of hydrocephalus in the spinal muscular atrophy (SMA) population relative to the general population is currently unknown. Since the approval of nusinersen, an intrathecally administered drug for ...

    Authors: Emma Viscidi, Nasha Wang, Maneesh Juneja, Ishir Bhan, Claudia Prada, Dayle James, Stacie Lallier, Corinne Makepeace, Karen Laird, Susan Eaton, Anne Dilley and Susan Hall

    Citation: Orphanet Journal of Rare Diseases 2021 16:207

    Content type: Research

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  25. Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and disease...

    Authors: Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl, Stephen C. Pak, John H. Postlethwait, Jimann Shin, Lilianna Solnica-Krezel, Hugo J. Bellen and Monte Westerfield

    Citation: Orphanet Journal of Rare Diseases 2021 16:206

    Content type: Position statement

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  26. Primary hemophagocytic lymphohistiocytosis (pHLH) is a rare and life-threatening disorder, which usually occurs during infancy or early childhood and is characterized by abnormal activation of the immune syste...

    Authors: Annabel Nixon, Elina Roddick, Karen Moore and Diane Wild

    Citation: Orphanet Journal of Rare Diseases 2021 16:205

    Content type: Research

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  27. The global spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causing the ongoing coronavirus disease 2019 (COVID-19) pandemic has raised serious concern for patients with chronic...

    Authors: Thomas H. Brannagan III, Michaela Auer-Grumbach, John L. Berk, Chiara Briani, Vera Bril, Teresa Coelho, Thibaud Damy, Angela Dispenzieri, Brian M. Drachman, Nowell Fine, Hanna K. Gaggin, Morie Gertz, Julian D. Gillmore, Esther Gonzalez, Mazen Hanna, David R. Hurwitz…

    Citation: Orphanet Journal of Rare Diseases 2021 16:204

    Content type: Position statement

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  28. Degos disease is a rare vascular disorder with a cutaneous-limited form, benign atrophic papulosis (BAP), and a systemic variant, malignant atrophic papulosis (MAP). Despite the poor prognosis of MAP, no study...

    Authors: Justin D. Lu, Muskaan Sachdeva, Orli M. Silverberg, Lee Shapiro, David Croitoru and Rebecca Levy

    Citation: Orphanet Journal of Rare Diseases 2021 16:203

    Content type: Research

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  29. Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVI...

    Authors: Helena Mosbah, Muriel Coupaye, Flavien Jacques, Maithé Tauber, Karine Clément, Jean-Michel Oppert and Christine Poitou

    Citation: Orphanet Journal of Rare Diseases 2021 16:202

    Content type: Research

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  30. Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spa...

    Authors: Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Joaquín J. Salas and José A. Sánchez-Alcázar

    Citation: Orphanet Journal of Rare Diseases 2021 16:201

    Content type: Research

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  31. Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, manifesting variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective ...

    Authors: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady…

    Citation: Orphanet Journal of Rare Diseases 2021 16:200

    Content type: Letter to the Editor

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  32. Pompe disease (PD) is a rare inherited disorder caused by the deficiency of acid-α glucosidase, which leads to the impairment of organ and tissue functions and causes disabilities. As the first national survey...

    Authors: Shanquan Chen, Jingxuan Wang, Jianfeng Zhu, Roger Yat-Nork Chung and Dong Dong

    Citation: Orphanet Journal of Rare Diseases 2021 16:199

    Content type: Research

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  33. About 30 million people in the EU and USA, respectively, suffer from a rare disease. Driven by European legislative requirements, national strategies for the improvement of care in rare diseases are being deve...

    Authors: Alexandra Berger, Anne-Kathrin Rustemeier, Jens Göbel, Dennis Kadioglu, Vanessa Britz, Katharina Schubert, Klaus Mohnike, Holger Storf and Thomas O. F. Wagner

    Citation: Orphanet Journal of Rare Diseases 2021 16:198

    Content type: Research

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  34. The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current s...

    Authors: Daphna Landau Prat, William R. Katowitz, Alanna Strong and James A. Katowitz

    Citation: Orphanet Journal of Rare Diseases 2021 16:197

    Content type: Research

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  35. During the COVID-19 pandemic, most of the health care systems suspended their non-urgent activities. This included the cancellation of consultations for patients with rare diseases, such as severe pulmonary hy...

    Authors: Laurent Godinas, Keerthana Iyer, Gergely Meszaros, Rozenn Quarck, Pilar Escribano-Subias, Anton Vonk Noordegraaf, Pavel Jansa, Michele D’Alto, Milan Luknar, Senka Milutinov Ilic, Catharina Belge, Olivier Sitbon, Abílio Reis, Stephan Rosenkranz, Joanna Pepke-Zaba, Marc Humbert…

    Citation: Orphanet Journal of Rare Diseases 2021 16:196

    Content type: Research

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  36. Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and inter...

    Authors: Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort…

    Citation: Orphanet Journal of Rare Diseases 2021 16:195

    Content type: Research

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  37. Limb–girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. Subtype 2A (LGMD2A) also known as “calpainopathy” is an inherited autosomal recessive gen...

    Authors: Silvio Quick, Max Winkler, Uwe Speiser, Karim Ibrahim, Jochen Schäfer, Axel Linke, Kun Zhang, Marian Christoph and Felix M. Heidrich

    Citation: Orphanet Journal of Rare Diseases 2021 16:194

    Content type: Research

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  38. To determine whether revision laparoscopic Kasai portoenterostomy (RLKPE) is a viable treatment option for patients with biliary atresia (BA) who had undergone initially successful laparoscopic Kasai portoente...

    Authors: Yi Ji, Xuepeng Zhang, Siyuan Chen, Yanan Li, Kaiying Yang, Jiangyuan Zhou and Zhicheng Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:193

    Content type: Research

    Published on:

  40. Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive neoplasm arising from the synovium of joints, bursae, and tendon sheaths affecting small and large joints. It represents a wide spectrum rangi...

    Authors: Nicholas M. Bernthal, Geert Spierenburg, John H. Healey, Emanuela Palmerini, Sebastian Bauer, Hans Gelderblom, Eric L. Staals, Julio Lopez-Bastida, Eva-Maria Fronk, Xin Ye, Petra Laeis and Michiel A. J. van de Sande

    Citation: Orphanet Journal of Rare Diseases 2021 16:191

    Content type: Research

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  41. The spectrum of disorders associated with hyperinsulinemic hypoglycemia (HHI) has vastly increased over the past 20 years with identification of molecular, metabolic and cellular pathways involved in the regul...

    Authors: Swathi Sethuram, Mark A. Sperling, Jasmine Gujral and Christopher J. Romero

    Citation: Orphanet Journal of Rare Diseases 2021 16:190

    Content type: Research

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  42. For communities of people living with hemophilia and other genetic conditions, gene therapy could represent a paradigm shift in treatment strategies. As investigational therapeutic modalities such as gene ther...

    Authors: Daniel P. Hart, Brian R. Branchford, Sarah Hendry, Robert Ledniczky, Robert F. Sidonio Jr., Claude Négrier, Michelle Kim, Michelle Rice, Matthew Minshall, Claire Arcé, Steve Prince, Maria Kelleher and Sharon Lee

    Citation: Orphanet Journal of Rare Diseases 2021 16:189

    Content type: Research

    Published on:

  43. Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease in human. We aimed to describe the genotype distribution in a large cohort of Chinese DMD patients and their delayed loss of ambulati...

    Authors: Shu Zhang, Dongdong Qin, Liwen Wu, Man Li, Lifang Song, Cuijie Wei, Chunling Lu, Xiaoli Zhang, Siqi Hong, Mingming Ma and Shiwen Wu

    Citation: Orphanet Journal of Rare Diseases 2021 16:188

    Content type: Research

    Published on:

  44. This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates. The overall impact of AHP on patients...

    Authors: Liz Gill, Sue Burrell, John Chamberlayne, Stephen Lombardelli, Jordanna Mora, Nicola Mason, Marieke Schurer, Madeline Merkel, Stephen Meninger and John J. Ko

    Citation: Orphanet Journal of Rare Diseases 2021 16:187

    Content type: Research

    Published on:

  45. Patient access to orphan medicinal products (OMPs) is limited and varies between countries, reimbursement decisions on OMPs are complex, and there is a need for more transparent processes to know which criteri...

    Authors: Fernando de Andrés-Nogales, Encarnación Cruz, Miguel Ángel Calleja, Olga Delgado, Maria Queralt Gorgas, Jaime Espín, Jorge Mestre-Ferrándiz, Francesc Palau, Alba Ancochea, Rosabel Arce, Raquel Domínguez-Hernández and Miguel Ángel Casado

    Citation: Orphanet Journal of Rare Diseases 2021 16:186

    Content type: Research

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  46. CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness a...

    Authors: Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer…

    Citation: Orphanet Journal of Rare Diseases 2021 16:185

    Content type: Research

    Published on:

  47. Patients with vasculitis, a set of rare diseases, encounter delays in obtaining an accurate diagnosis which can lead to substantial morbidity and increased mortality. This study sought to describe the diagnost...

    Authors: Antoine G. Sreih, Keri Cronin, Dianne G. Shaw, Kalen Young, Cristina Burroughs, Joyce Kullman, Kirthi Machireddy, Carol A. McAlear and Peter A. Merkel

    Citation: Orphanet Journal of Rare Diseases 2021 16:184

    Content type: Research

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  48. In traditional clinical trial design, efficacy is typically assessed using a single primary endpoint in a randomized controlled trial to detect an expected treatment effect of a therapy in a narrowly selected ...

    Authors: P. K. Tandon and Emil D. Kakkis

    Citation: Orphanet Journal of Rare Diseases 2021 16:183

    Content type: Review

    Published on:

  49. Recurrent spontaneous epistaxis is the most common clinical manifestation and the most debilitating symptom in hereditary haemorrhagic telangiectasia (HHT) patients. To this date, there exist only a classifica...

    Authors: F. Haubner, A. Schneider, H. Schinke, M. Bertlich, B. G. Weiss, M. Canis and F. Kashani

    Citation: Orphanet Journal of Rare Diseases 2021 16:182

    Content type: Research

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  50. The tuberous sclerosis-associated neuropsychiatric disorders (TAND) have not previously been studied in China. We aimed to assess the psychiatric level of individuals with TAND using the Mini International Neu...

    Authors: Yifeng Ding, Ji Wang, Hao Zhou, Taoli Li, Shuizhen Zhou and Yi Wang

    Citation: Orphanet Journal of Rare Diseases 2021 16:181

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172