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  1. Rett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and ca...

    Authors: Yvonne Naegelin, Jens Kuhle, Sabine Schädelin, Alexandre N. Datta, Stefano Magon, Michael Amann, Christian Barro, Gian Paolo Ramelli, Kate Heesom, Yves-Alain Barde, Peter Weber and Ludwig Kappos

    Citation: Orphanet Journal of Rare Diseases 2021 16:19

    Content type: Research

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  2. Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Dia...

    Authors: Stéphane Vignes, Juliette Albuisson, Laurence Champion, Joël Constans, Valérie Tauveron, Julie Malloizel, Isabelle Quéré, Laura Simon, Maria Arrault, Patrick Trévidic, Philippe Azria and Annabel Maruani

    Citation: Orphanet Journal of Rare Diseases 2021 16:18

    Content type: Position statement

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  3. Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and mole...

    Authors: Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha and Anna Tylki-Szymańska

    Citation: Orphanet Journal of Rare Diseases 2021 16:17

    Content type: Research

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  4. MEN1 is a complex, rare, syndrome inherited in an autosomal dominant tract and characterized by the development of multiple neuroendocrine tumors, requiring lifelong surveillance and multiple medical and surgi...

    Authors: Francesca Giusti, Federica Cioppi, Caterina Fossi, Francesca Marini, Laura Masi, Francesco Tonelli and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2021 16:16

    Content type: Research

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  5. To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation.

    Authors: Camille S. Corre, Natalie Grant, Reza Sadjadi, Douglas Hayden, Catherine Becker, Pablo Gomery and Florian S. Eichler

    Citation: Orphanet Journal of Rare Diseases 2021 16:14

    Content type: Research

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  6. If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme ac...

    Authors: Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar and Simon A. Jones

    Citation: Orphanet Journal of Rare Diseases 2021 16:13

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:113

  7. Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, sev...

    Authors: L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz and M. L. Brandi

    Citation: Orphanet Journal of Rare Diseases 2021 16:11

    Content type: Review

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  8. Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also ...

    Authors: Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster, Zeljko Uzelac, Sophia Platen, Christina Gipperich, Gresa Ranxha, Gary Wieselmann, Alma Osmanovic, Albert C. Ludolph, Susanne Petri and Dorothée Lulé

    Citation: Orphanet Journal of Rare Diseases 2021 16:10

    Content type: Research

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  9. This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-...

    Authors: Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum and Julio Tanabe

    Citation: Orphanet Journal of Rare Diseases 2021 16:9

    Content type: Review

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  10. Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therap...

    Authors: Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer and Joel Frader

    Citation: Orphanet Journal of Rare Diseases 2021 16:8

    Content type: Research

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  11. Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the...

    Authors: Mei Yao, Ying Ma, Ruiying Qian, Yu Xia, Changzheng Yuan, Guannan Bai and Shanshan Mao

    Citation: Orphanet Journal of Rare Diseases 2021 16:7

    Content type: Research

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  12. 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carrier...

    Authors: Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne and Ryan K. C. Yuen

    Citation: Orphanet Journal of Rare Diseases 2021 16:6

    Content type: Research

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  13. We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC).

    Authors: Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, Masaya Kubota, Takashi Shiihara, Tohru Okanishi, Ryuta Tanaka, Ichiro Kuki, Tetsuhiro Fukuyama, Mitsuru Kashiwagi, Mitsuru Ikeno, Kazuo Kubota, Manami Akasaka, Masakazu Mimaki and Akihisa Okumura

    Citation: Orphanet Journal of Rare Diseases 2021 16:5

    Content type: Research

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  14. The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived fr...

    Authors: Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo and Salud Borrego

    Citation: Orphanet Journal of Rare Diseases 2021 16:4

    Content type: Letter to the Editor

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  15. Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges in clinical trial design. Alternative strategies ...

    Authors: Eve Fouarge, Arnaud Monseur, Bruno Boulanger, Mélanie Annoussamy, Andreea M. Seferian, Silvana De Lucia, Charlotte Lilien, Leen Thielemans, Khazal Paradis, Belinda S. Cowling, Chris Freitag, Bradley P. Carlin and Laurent Servais

    Citation: Orphanet Journal of Rare Diseases 2021 16:3

    Content type: Research

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  16. Langerhans cell histiocytosis (LCH) is a rare disease that originates from the uncontrolled proliferation and accumulation of bone marrow-derived immature myeloid dendritic cells. Dendritic cells are a type of...

    Authors: Nahid Reisi, Pouran Raeissi, Touraj Harati Khalilabad and Alireza Moafi

    Citation: Orphanet Journal of Rare Diseases 2021 16:1

    Content type: Review

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  17. Systemic necrotizing vasculitis comprises a group of diseases resembling polyarteritis nodosa and anti-neutrophil cytoplasmic antibody-associated vasculitis (ANCA): granulomatosis with polyangiitis, eosinophil...

    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 2020 15(Suppl 2):351

    Content type: Position statement

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    This article is part of a Supplement: Volume 15 Supplement 2

  18. On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of S...

    Authors: Fabio Pagella, Roberta Lizzio, Sara Ugolini, Giuseppe Spinozzi, Eugenia Maiorano, Patrizia Suppressa, Carlo Sabbà and Elina Matti

    Citation: Orphanet Journal of Rare Diseases 2020 15:350

    Content type: Letter to the Editor

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  19. Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestati...

    Authors: Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones and Erich Schneider

    Citation: Orphanet Journal of Rare Diseases 2020 15:349

    Content type: Research

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  20. Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage ...

    Authors: M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri…

    Citation: Orphanet Journal of Rare Diseases 2020 15:348

    Content type: Position statement

    Published on:

  21. In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases a...

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

    Citation: Orphanet Journal of Rare Diseases 2020 15:347

    Content type: Research

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  22. Unbiased in silico approaches applied to genome-wide data prioritized putative functional gene variants associating with treatment-resistant ophthalmoplegic myasthenia gravis (OP-MG). Although altered expressi...

    Authors: Tarin A. Europa, Melissa Nel and Jeannine M. Heckmann

    Citation: Orphanet Journal of Rare Diseases 2020 15:346

    Content type: Research

    Published on:

  23. Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have ...

    Authors: Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa and Maciej Robert Krawczyński

    Citation: Orphanet Journal of Rare Diseases 2020 15:345

    Content type: Research

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  24. Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological c...

    Authors: Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan and Zhaoxia Wang

    Citation: Orphanet Journal of Rare Diseases 2020 15:344

    Content type: Research

    Published on:

  25. GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically con...

    Authors: Soo Yeon Kim, YoungKyu Shim, Young Joon Ko, Soojin Park, Se Song Jang, Byung Chan Lim, Ki Joong Kim and Jong-Hee Chae

    Citation: Orphanet Journal of Rare Diseases 2020 15:343

    Content type: Research

    Published on:

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

    Authors: Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum

    Citation: Orphanet Journal of Rare Diseases 2020 15:342

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:123

  27. The ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs). To perform a pr...

    Authors: C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, C. Brown, A. Finglas, R. Francisco, S. Sestini, J. M. Heard and M. Scarpa

    Citation: Orphanet Journal of Rare Diseases 2020 15:341

    Content type: Letter to the Editor

    Published on:

  28. This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential c...

    Authors: Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu and Lianshu Han

    Citation: Orphanet Journal of Rare Diseases 2020 15:340

    Content type: Research

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  29. Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.

    Authors: Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze and Saadet Mercimek-Andrews

    Citation: Orphanet Journal of Rare Diseases 2020 15:339

    Content type: Research

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  30. Aplasia cutis congenita (ACC) in patients with hereditary epidermolysis bullosa (EB) is often associated with major pain. We report our experience with using topical ropivacaine during dressing in newborns wit...

    Authors: A. Chambelland, C. Devos, F. Casagrande and C. Chiaverini

    Citation: Orphanet Journal of Rare Diseases 2020 15:338

    Content type: Letter to the Editor

    Published on:

  31. Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our kn...

    Authors: Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, Chia-Hung Wu, Sheng-Kai Chang, Hsiu-Lien Cheng, Po-Hsiung Chang, Dau-Ming Niu and Yen-Fu Cheng

    Citation: Orphanet Journal of Rare Diseases 2020 15:337

    Content type: Research

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  32. Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recogni...

    Authors: Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel and Andrew J. Degnan

    Citation: Orphanet Journal of Rare Diseases 2020 15:336

    Content type: Research

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  33. Phelan–McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD) and...

    Authors: Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li and Yongguo Yu

    Citation: Orphanet Journal of Rare Diseases 2020 15:335

    Content type: Research

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  34. This report addresses how patients with hereditary hemorrhagic telangiectasia (HHT) and high output cardiac failure (HOCF) due to hepatic vascular malformations, should be evaluated and could be treated. HHT i...

    Authors: Lilian B. Olsen, Anette D. Kjeldsen, Mikael K. Poulsen, Jens Kjeldsen and Annette D. Fialla

    Citation: Orphanet Journal of Rare Diseases 2020 15:334

    Content type: Research

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  35. The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing seque...

    Authors: Vanita Berry, Alex Ionides, Nikolas Pontikos, Michalis Georgiou, Jing Yu, Louise A. Ocaka, Anthony T. Moore, Roy A. Quinlan and Michel Michaelides

    Citation: Orphanet Journal of Rare Diseases 2020 15:333

    Content type: Research

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  36. In adult patients with secondary hemophagocytic lymphohistiocytosis (sHLH), no valid immune biomarker has been available for predicting the prognosis of untreated sHLH patients.

    Authors: Guangli Yin, Changfeng Man, Jiayu Huang, Shengen Liao, Xin Gao, Tian Tian, Limin Duan, Ji Xu and Hongxia Qiu

    Citation: Orphanet Journal of Rare Diseases 2020 15:332

    Content type: Research

    Published on:

  37. Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessiv...

    Authors: G. Hazan, E. Hershkovitz and O. Staretz-Chacham

    Citation: Orphanet Journal of Rare Diseases 2020 15:331

    Content type: Research

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  38. The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to...

    Authors: Renata S. Scalco, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Nicol C. Voermans, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San-Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebeca Trost…

    Citation: Orphanet Journal of Rare Diseases 2020 15:330

    Content type: Research

    Published on:

  39. Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liv...

    Authors: Angela Galeotti, Sara De Rosa, Roberto Uomo, Carlo Dionisi-Vici, Federica Deodato, Roberta Taurisano, Giorgia Olivieri and Paola Festa

    Citation: Orphanet Journal of Rare Diseases 2020 15:329

    Content type: Research

    Published on:

  40. Niemann–Pick disease type C (NPC) is a rare, progressive, neurodegenerative disease associated with neurovisceral manifestations resulting from lysosomal dysfunction and aberrant lipid accumulation. A multicen...

    Authors: Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson…

    Citation: Orphanet Journal of Rare Diseases 2020 15:328

    Content type: Research

    Published on:

  41. Viliuisk encephalomyelitis (VE) is a rare endemic neurodegenerative disease occurring in the Yakut population of Northeastern Siberia. The main clinical features of VE are spasticity, dysarthria, dementia, cen...

    Authors: Veronika Kuznetsova, Alexander Tyakht, Lyudmila Akhmadishina, Vera Odintsova, Natalia Klimenko, Elena Kostryukova, Maria Vakhitova, Tatyana Grigoryeva, Sergey Malanin, Vsevolod Vladimirtsev, Raisa Nikitina, Viktor Volok, Vladimir Osakovskiy, Tatiana Sivtseva, Fyodor Platonov, Dmitry Alexeev…

    Citation: Orphanet Journal of Rare Diseases 2020 15:327

    Content type: Research

    Published on:

  42. Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and pred...

    Authors: Elina Holopainen, Svetlana Vakkilainen and Outi Mäkitie

    Citation: Orphanet Journal of Rare Diseases 2020 15:326

    Content type: Research

    Published on:

  43. Choriocarcinoma is a rare malignant neoplasm, which is classified as either gestational choriocarcinoma or nongestational choriocarcinoma. The purpose of this study was to examine the clinical characteristics ...

    Authors: Yuming Shao, Yang Xiang, Fang Jiang, Boju Pan, Xirun Wan, Junjun Yang, Fengzhi Feng, Tong Ren and Jun Zhao

    Citation: Orphanet Journal of Rare Diseases 2020 15:325

    Content type: Research

    Published on:

  44. In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The popula...

    Authors: Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo and Ursula Matte

    Citation: Orphanet Journal of Rare Diseases 2020 15:324

    Content type: Research

    Published on:

  45. The diagnosis of rare diseases poses a particular challenge to clinicians. This study analyzes whether patients’ pain drawings (PDs) help in the differentiation of two pain-associated rare diseases, Ehlers-Dan...

    Authors: Larissa Wester, Martin Mücke, Tim Theodor Albert Bender, Julia Sellin, Frank Klawonn, Rupert Conrad and Natasza Szczypien

    Citation: Orphanet Journal of Rare Diseases 2020 15:323

    Content type: Research

    Published on:

  46. Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mu...

    Authors: Ha Trang, Pauline Bourgeois and Fawzia Cheliout-Heraut

    Citation: Orphanet Journal of Rare Diseases 2020 15:322

    Content type: Research

    Published on:

  48. Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has...

    Authors: Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho Jr., Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2020 15:320

    Content type: Research

    Published on:

  49. Primary hyperoxaluria type 1 (PH1) is associated with nephrocalcinosis (NC) and calcium oxalate (CaOx) kidney stones (KS). Populations of urinary extracellular vesicles (EVs) can reflect kidney pathology. The ...

    Authors: Muthuvel Jayachandran, Stanislav V. Yuzhakov, Sanjay Kumar, Nicholas B. Larson, Felicity T. Enders, Dawn S. Milliner, Andrew D. Rule and John C. Lieske

    Citation: Orphanet Journal of Rare Diseases 2020 15:319

    Content type: Research

    Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:91

  50. Ameloblastic carcinoma (AC) is an odontogenic malignant tumor which is closely related to benign ameloblastoma. Because of its rarity, diagnosis and treatment are difficult. In this study, we summarized and an...

    Authors: Zhixing Niu, Ye Li, Wantao Chen, Junfang Zhao, Hongyu Zheng, Qing Deng, Zhian Zha, Hao Zhu, Qiang Sun and Lei Su

    Citation: Orphanet Journal of Rare Diseases 2020 15:316

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172