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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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

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  22. 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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  23. 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

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  24. 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

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  25. 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

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  26. 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

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  27. 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

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  28. 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

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  29. 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

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  30. 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

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  31. 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

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  32. 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

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  33. Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char...

    Authors: Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie…

    Citation: Orphanet Journal of Rare Diseases 2020 15:253

    Content type: Position statement

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  34. Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunctio...

    Authors: Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal…

    Citation: Orphanet Journal of Rare Diseases 2020 15:252

    Content type: Review

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  35. The introduction of new therapy modalities has significantly improved the outcome of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients. However, relatively little is known about the e...

    Authors: Kimmo Weisshaar, Hannah Ewald, Jörg Halter, Sabine Gerull, Sandra Schönfeld, Yuliya Senft, Maria Martinez, Anne Leuppi-Taegtmeyer, Nina Khanna, Birgit Maier, Antonio Risitano, Regis Peffault de Latour, Andre Tichelli, Jakob Passweg and Beatrice Drexler

    Citation: Orphanet Journal of Rare Diseases 2020 15:249

    Content type: Research

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  36. Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA...

    Authors: Karamjot Sidhu, Bilal Ali, Lauren A. Burt, Steven K. Boyd and Aneal Khan

    Citation: Orphanet Journal of Rare Diseases 2020 15:251

    Content type: Research

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  37. We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScor...

    Authors: Zefu Chen, Zihui Yan, Chenxi Yu, Jiaqi Liu, Yanbin Zhang, Sen Zhao, Jiachen Lin, Yuanqiang Zhang, Lianlei Wang, Mao Lin, Yingzhao Huang, Xiaoxin Li, Yuchen Niu, Shengru Wang, Zhihong Wu, Guixing Qiu…

    Citation: Orphanet Journal of Rare Diseases 2020 15:250

    Content type: Research

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  38. This study aimed to explore the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration (PKAN).

    Authors: Xuting Chang, Jie Zhang, Yuwu Jiang, Bufan Yao, Jingmin Wang and Ye Wu

    Citation: Orphanet Journal of Rare Diseases 2020 15:248

    Content type: Research

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  39. Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit...

    Authors: J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout and N. A. M. E. van der Beek

    Citation: Orphanet Journal of Rare Diseases 2020 15:247

    Content type: Research

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  40. Approximately 50–70% of patients with Kawasaki disease (KD) could present with cervical lymphadenopathy associated with deep neck inflammation, which may result in Grisel’s syndrome (GS). Given the possibility...

    Authors: Xiaoliang Liu, Kaiyu Zhou, Yimin Hua, Mei Wu, Lei Liu, Shuran Shao and Chuan Wang

    Citation: Orphanet Journal of Rare Diseases 2020 15:246

    Content type: Research

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  41. GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progre...

    Authors: Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura and Madoka Mori-Yoshimura

    Citation: Orphanet Journal of Rare Diseases 2020 15:245

    Content type: Research

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  42. STAT3 hyper-IgE syndrome (STAT3-HIES) is a rare primary immunodeficiency that clinically overlaps with atopic dermatitis. In addition to eczema, elevated serum-IgE, and recurrent infections, STAT3-HIES patient...

    Authors: Iris Meixner, Beate Hagl, Carolin I. Kröner, Benedikt D. Spielberger, Ekaterini Paschos, Gregor Dückers, Tim Niehues, Ronny Hesse and Ellen D. Renner

    Citation: Orphanet Journal of Rare Diseases 2020 15:244

    Content type: Research

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  43. Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to d...

    Authors: Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls and Christiane Kehrer

    Citation: Orphanet Journal of Rare Diseases 2020 15:243

    Content type: Research

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  44. Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a...

    Authors: Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt and Alma Kuechler

    Citation: Orphanet Journal of Rare Diseases 2020 15:242

    Content type: Research

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  45. Lung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe presentations are observed.

    Authors: Solenne Le Louet, Mohamed-Aziz Barkaoui, Jean Miron, Claire Galambrun, Nathalie Aladjidi, Pascal Chastagner, Kamila Kebaili, Corinne Armari-Alla, Anne Lambilliotte, Julien Lejeune, Despina Moshous, Valeria Della Valle, Chiara Sileo, Hubert Ducou Le Pointe, Jean-François Chateil, Sylvain Renolleau…

    Citation: Orphanet Journal of Rare Diseases 2020 15:241

    Content type: Research

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  46. Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but no...

    Authors: Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen and Bo-Feng Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:240

    Content type: Research

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

    Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:239

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:137

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

    Authors: Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen and Annet M. Bosch

    Citation: Orphanet Journal of Rare Diseases 2020 15:238

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:42