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  2. With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people ...

    Authors: Mohammad Jakir Hosen, Saeed Anwar, Jarin Taslem Mourosi, Sourav Chakraborty, Md. Faruque Miah and Olivier M. Vanakker

    Citation: Orphanet Journal of Rare Diseases 2021 16:168

    Content type: Review

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  4. Smith–Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive fa...

    Authors: Jong Eun Park, Taeheon Lee, Kyeongsu Ha and Chang-Seok Ki

    Citation: Orphanet Journal of Rare Diseases 2021 16:166

    Content type: Research

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  6. The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare ...

    Authors: Alessia Paglialonga, Raffaella Gaetano, Leema Robert, Marine Hurard, Luisa Maria Botella, Natasha Barr, Guillaume Jondeau and Alessandro Pini

    Citation: Orphanet Journal of Rare Diseases 2021 16:164

    Content type: Position statement

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  7. Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decli...

    Authors: Lorenza Magliano, Laura Obici, Claudia Sforzini, Anna Mazzeo, Massimo Russo, Francesco Cappelli, Silvia Fenu, Marco Luigetti, Matteo Tagliapietra, Chiara Gemelli, Luca Leonardi, Stefano Tozza, Luca Guglielmo Pradotto, Giulia Citarelli, Alessandro Mauro, Fiore Manganelli…

    Citation: Orphanet Journal of Rare Diseases 2021 16:163

    Content type: Research

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  8. The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area.

    Authors: Arturo Carta, Stefania Favilla, Giacomo Calzetti, Maria Cristina Casalini, Pier Francesco Ferrari, Bernardo Bianchi, Maria Beatrice Simonelli, Roberta Farci, Stefano Gandolfi and Paolo Mora

    Citation: Orphanet Journal of Rare Diseases 2021 16:162

    Content type: Research

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  9. Data silos are proliferating while research and development activity explode following genetic and immunological advances for many clinically described disorders with previously unknown etiologies. The latter ...

    Authors: Nathan Denton, Monique Molloy, Samantha Charleston, Craig Lipset, Jonathan Hirsch, Andrew E. Mulberg, Paul Howard and Eric D. Marsh

    Citation: Orphanet Journal of Rare Diseases 2021 16:161

    Content type: Position statement

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  11. Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried...

    Authors: Meijuan Liu, Min Liu, Xuejun Liang, Di Wu, Wenjing Li, Chang Su, Bingyan Cao, Jiajia Chen and Chunxiu Gong

    Citation: Orphanet Journal of Rare Diseases 2021 16:159

    Content type: Research

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  13. Transfusion-dependent thalassaemia (TDT) is a hereditary blood disorder in which blood transfusion is the mainstay treatment to prolong survival and improve quality of life. Patients with this disease require ...

    Authors: Asrul Akmal Shafie, Jacqueline Hui Yi Wong, Hishamshah Mohd Ibrahim, Noor Syahireen Mohammed and Irwinder Kaur Chhabra

    Citation: Orphanet Journal of Rare Diseases 2021 16:157

    Content type: Research

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  14. Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking.

    Authors: Svein O. Fredwall, Britt Øverland, Hanne Berdal, Søren Berg, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum

    Citation: Orphanet Journal of Rare Diseases 2021 16:156

    Content type: Research

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  15. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Benjamin Terrier, Raphaël Darbon, Cécile-Audrey Durel, Eric Hachulla, Alexandre Karras, Hélène Maillard, Thomas Papo, Xavier Puechal, Grégory Pugnet, Thomas Quemeneur, Maxime Samson, Camille Taille and Loïc Guillevin

    Citation: Orphanet Journal of Rare Diseases 2021 16:155

    Content type: Correction

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    The original article was published in Orphanet Journal of Rare Diseases 2020 15:351

  16. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda…

    Citation: Orphanet Journal of Rare Diseases 2021 16:154

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:104

  17. Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disabi...

    Authors: Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel…

    Citation: Orphanet Journal of Rare Diseases 2021 16:153

    Content type: Research

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  18. Central nervous system (CNS) involvement is extremely rare in eosinophilic granulomatosis with polyangiitis (EGPA), but is associated with a poor prognosis in the five-factor score. This study aims to elucidat...

    Authors: Suying Liu, Ling Guo, Xiaoyuan Fan, Zhaocui Zhang, Jiaxin Zhou, Xinping Tian, Mengtao Li, Xiaofeng Zeng, Li Wang and Fengchun Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:152

    Content type: Research

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  19. Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain. For ex...

    Authors: Edward H. Schuchman, Maria D. Ledesma and Calogera M. Simonaro

    Citation: Orphanet Journal of Rare Diseases 2021 16:151

    Content type: Review

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  20. Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have been developed in recent years that change the na...

    Authors: Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdzinski and Anna Kostera-Pruszczyk

    Citation: Orphanet Journal of Rare Diseases 2021 16:150

    Content type: Research

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  21. Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a ...

    Authors: Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu and Dongmei Chen

    Citation: Orphanet Journal of Rare Diseases 2021 16:149

    Content type: Research

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  22. Hydroxyurea and blood transfusion therapies remain the main therapeutic strategies for Sickle cell disease. Preliminary data suggest substantial variation and inconsistencies in practice of these two therapeut...

    Authors: Thamal Darshana, David Rees and Anuja Premawardhena

    Citation: Orphanet Journal of Rare Diseases 2021 16:148

    Content type: Review

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  23. Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It ...

    Authors: Antonietta Moramarco, Fabiana Mallone, Marta Sacchetti, Luca Lucchino, Emanuele Miraglia, Vincenzo Roberti, Alessandro Lambiase and Sandra Giustini

    Citation: Orphanet Journal of Rare Diseases 2021 16:147

    Content type: Research

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  24. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Rosaria Talarico, Sara Cannizzo, Valentina Lorenzoni, Diana Marinello, Ilaria Palla, Salvatore Pirri, Simone Ticciati, Leopoldo Trieste, Isotta Triulzi, Enrique Terol, Anna Bucher and Giuseppe Turchetti

    Citation: Orphanet Journal of Rare Diseases 2021 16:146

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:347

  25. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann…

    Citation: Orphanet Journal of Rare Diseases 2021 16:145

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:206

  26. This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients...

    Authors: Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Atil Bisgin and Halise Neslihan Önenli Mungan

    Citation: Orphanet Journal of Rare Diseases 2021 16:144

    Content type: Research

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  27. Diagnostic precision and the identification of rare diseases is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next ...

    Authors: Anna-Lena Walter, Florent Baty, Frank Rassouli, Stefan Bilz and Martin Hugo Brutsche

    Citation: Orphanet Journal of Rare Diseases 2021 16:131

    Content type: Research

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  28. Hemophilia B is a rare congenital bleeding disorder that has a significant negative impact on patients’ functionality and health-related quality of life. The standard of care for severe hemophilia B in the Uni...

    Authors: Tom Burke, Sohaib Asghar, Jamie O’Hara, Eileen K. Sawyer and Nanxin Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:143

    Content type: Research

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  29. Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relativ...

    Authors: Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers…

    Citation: Orphanet Journal of Rare Diseases 2021 16:142

    Content type: Position statement

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  30. It has recently been suggested that registries for rare neuromuscular diseases should be formed and governed exclusively by physicians and patients in an effort to limit conflicts of interest. Enacting such an...

    Authors: Hanns Lochmüller, Antonio Nino Ramirez and Emil Kakkis

    Citation: Orphanet Journal of Rare Diseases 2021 16:141

    Content type: Letter to the Editor

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  31. Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplin...

    Authors: Wouter Nijhuis, Anton Franken, Kara Ayers, Chantal Damas, Lars Folkestad, Antonella Forlino, Paolo Fraschini, Claire Hill, Guus Janus, Richard Kruse, Lena Lande Wekre, Lieve Michiels, Kathleen Montpetit, Leonardo Panzeri, Valerie Porquet-Bordes, Frank Rauch…

    Citation: Orphanet Journal of Rare Diseases 2021 16:140

    Content type: Research

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  32. Estimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases. The objective of ...

    Authors: Shourick Jason, Wack Maxime and Jannot Anne-Sophie

    Citation: Orphanet Journal of Rare Diseases 2021 16:139

    Content type: Research

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  33. PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-...

    Authors: Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman and Eva Morava

    Citation: Orphanet Journal of Rare Diseases 2021 16:138

    Content type: Letter to the Editor

    Published on:

  34. We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years....

    Authors: Brigitte W. M. Willemse, Saskia N. van der Crabben, Wilhelmina S. Kerstjens-Frederikse, Wim Timens, Joris M. van Montfrans, Caroline A. Lindemans, Jaap Jan Boelens, Marije P. Hennus and Gijs van Haaften

    Citation: Orphanet Journal of Rare Diseases 2021 16:137

    Content type: Letter to the Editor

    Published on:

  35. An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized...

    Authors: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward…

    Citation: Orphanet Journal of Rare Diseases 2021 16:136

    Content type: Research

    Published on:

  36. Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a ...

    Authors: Annemarie E. M. Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard and Holm Graessner

    Citation: Orphanet Journal of Rare Diseases 2021 16:135

    Content type: Research

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  37. Extramammary Paget’s disease (EMPD) is an intraepithelial adenocarcinoma. The chronic relapsing clinical course and unbearable clinical symptoms of extramammary Paget’s disease usually result in a markedly dim...

    Authors: Shilu Yin, Lu Xu, Shengfeng Wang, Jingnan Feng, Lili Liu, Guozhen Liu, Jinxi Wang, Siyan Zhan, Zhenmin Zhao and Pei Gao

    Citation: Orphanet Journal of Rare Diseases 2021 16:134

    Content type: Research

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  38. Lymphangioleiomyomatosis (LAM) is a rare disease that almost exclusively affects women of reproductive age. Patients are warned of the increased risks if they become pregnant. However, information on pregnancy...

    Authors: Lisha Shen, Whenshuai Xu, Jinsong Gao, Jun Wang, Jiannan Huang, Yani Wang, Yudi He, Yanli Yang, Xinlun Tian and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:133

    Content type: Research

    Published on:

  39. Intestinal Behçet’s syndrome (BS) has high morbidity and mortality rates with serious complications. The purpose of this study was to investigate the clinical characteristics and laboratory parameters of intes...

    Authors: Cheng-cheng Hou, Jing-fen Ye, Hai-fen Ma and Jian-long Guan

    Citation: Orphanet Journal of Rare Diseases 2021 16:132

    Content type: Research

    Published on:

  40. Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general po...

    Authors: Valérie Bonneau, Mathilde Nizon, Xenia Latypova, Aurélie Gaultier, Eugénie Hoarau, Stéphane Bézieau, Guy Minguet, Mauro Turrini, Maud Jourdain and Bertrand Isidor

    Citation: Orphanet Journal of Rare Diseases 2021 16:130

    Content type: Research

    Published on:

  41. Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD) does not exist currently, recent advances in complex molecular pathophysiology studies of FSHD have led to possible therap...

    Authors: Teresa Schätzl, Lars Kaiser and Hans-Peter Deigner

    Citation: Orphanet Journal of Rare Diseases 2021 16:129

    Content type: Review

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  42. To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rare...

    Authors: Michalis Georgiou, Naser Ali, Elizabeth Yang, Parampal S. Grewal, Tryfon Rotsos, Nikolas Pontikos, Anthony G. Robson and Michel Michaelides

    Citation: Orphanet Journal of Rare Diseases 2021 16:128

    Content type: Research

    Published on:

  43. Leber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disorder, characterized by acute or subacute bilateral vision loss, frequently leading to significant chronic disability, mainly in young peop...

    Authors: Andrea Rabenstein, Claudia B. Catarino, Verena Rampeltshammer, David Schindler, Constanze Gallenmüller, Claudia Priglinger, Oliver Pogarell, Tobias Rüther and Thomas Klopstock

    Citation: Orphanet Journal of Rare Diseases 2021 16:127

    Content type: Research

    Published on:

  44. Parents of children with severe inborn errors of metabolism frequently face stressful events related to the disease of their child and are consequently at high risk for developing parental posttraumatic stress...

    Authors: Thirsa Conijn, Lotte Haverman, Frits A. Wijburg and Carlijn De Roos

    Citation: Orphanet Journal of Rare Diseases 2021 16:126

    Content type: Letter to the Editor

    Published on:

  45. Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis....

    Authors: Ting Chen, Lili Liang, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Bing Xiao, Hong Zhu, Lei Wang, Feng Xu, Zhuwen Gong, Xuefan Gu and Lianshu Han

    Citation: Orphanet Journal of Rare Diseases 2021 16:125

    Content type: Research

    Published on:

  46. The main genetic causes of homocystinuria are cystathionine beta-synthase (CBS) deficiency and the remethylation defects. Many patients present in childhood but milder forms may present later in life. Some cou...

    Authors: T. Morrison, F. Bösch, M. A. Landolt, V. Kožich, M. Huemer and A. A. M. Morris

    Citation: Orphanet Journal of Rare Diseases 2021 16:124

    Content type: Research

    Published on:

  47. Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity g...

    Authors: Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter and Howard M. Lederman

    Citation: Orphanet Journal of Rare Diseases 2021 16:123

    Content type: Research

    Published on:

  48. Androgen insensitive syndrome (AIS) is a rare genetic disease resulting from androgen receptor (AR) mutations and one of the causes of 46, XY disorder of sexual development (DSD). This study aimed to describe the...

    Authors: Hui Zhu, Haijun Yao, Yue Xu, Yan Chen, Bing Han, Nan Wang, Hao Wang, Qiang Zhang, Wenjiao Zhu, Yuanping Shi, Hua Sun, Shuangxia Zhao, Huaidong Song, Yang Liu and Jie Qiao

    Citation: Orphanet Journal of Rare Diseases 2021 16:122

    Content type: Research

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  49. Rare diseases present a wide spectrum of clinical manifestations and severity levels and are often poorly known and underrepresented, making them difficult to classify. Diagnoses are usually coded using the In...

    Authors: Juan Rico, Luis Javier Echevarría-González de Garibay, María García-López, Sandra Guardiola-Vilarroig, Luis Alberto Maceda-Roldán, Óscar Zurriaga and Clara Cavero-Carbonell

    Citation: Orphanet Journal of Rare Diseases 2021 16:121

    Content type: Research

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  50. The aim was to compare parent and child-reported health-related quality of life (HRQOL) of children born with esophageal atresia (EA) and determine factors that affect the level of parent–child agreement.

    Authors: Stefanie Witt, Michaela Dellenmark-Blom, Susanne Kuckuck, Jens Dingemann, Kate Abrahamsson, Carmen Dingemann, John Eric Chaplin, Benno Ure, Monika Bullinger, Vladimir Gatzinsky, Linus Jönsson and Julia Hannah Quitmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:120

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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