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  1. Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. Facial recognition technology has advanced in recent years, and t...

    Authors: Dian Hong, Ying-Yi Zheng, Ying Xin, Ling Sun, Hang Yang, Min-Yin Lin, Cong Liu, Bo-Ning Li, Zhi-Wei Zhang, Jian Zhuang, Ming-Yang Qian and Shu-Shui Wang

    Citation: Orphanet Journal of Rare Diseases 2021 16:344

    Content type: Research

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  2. Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalit...

    Authors: Bruce H. R. Wolffenbuttel, M. Rebecca Heiner-Fokkema and Francjan J. van Spronsen

    Citation: Orphanet Journal of Rare Diseases 2021 16:343

    Content type: Letter to the Editor

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  3. Currently, most research on hemophagocytic lymphohistiocytosis (HLH) have focused on etiology and therapy, leaving few epidemiological reports. The published studies of China are mainly regional investigations...

    Authors: Shuyan Yao, Yini Wang, Yuan Sun, Li Liu, Rui Zhang, Jianpei Fang, Runming Jin, Jie Yu, Fei Li, Jie Bai, Yun Zeng, Cheng Zhang, Huo Tan, Fan Zhou, Yan Chen, Qiaohua Zhang…

    Citation: Orphanet Journal of Rare Diseases 2021 16:342

    Content type: Research

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  4. During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalani...

    Authors: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez and Frank Rutsch

    Citation: Orphanet Journal of Rare Diseases 2021 16:341

    Content type: Research

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  5. Huntington’s disease (HD) is clinically characterized by progressing motor, cognitive and psychiatric symptoms presenting as varying phenotypes within these three major symptom domains. The disease is caused b...

    Authors: Marie N. N. Hellem, Rebecca K. Hendel, Tua Vinther-Jensen, Ida U. Larsen, Troels T. Nielsen, Lena E. Hjermind, Esben Budtz-Jørgensen, Asmus Vogel and Jørgen E. Nielsen

    Citation: Orphanet Journal of Rare Diseases 2021 16:340

    Content type: Research

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  6. Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (N...

    Authors: Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng and Dongmei Chen

    Citation: Orphanet Journal of Rare Diseases 2021 16:339

    Content type: Research

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  7. Children with Robin sequence (RS) are at risk of growth failure, mainly due to their increased work of breathing and feeding difficulties. Various conservative and surgical treatment approaches exist, but thei...

    Authors: Cornelia Wiechers, Regina Iffländer, Rieke Gerdes, Melissa Ciuffolotti, Jörg Arand, Christina Weise, Katharina Peters, Bärbel Grandke, Siegmar Reinert, Bernd Koos and Christian F. Poets

    Citation: Orphanet Journal of Rare Diseases 2021 16:338

    Content type: Research

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  8. Many surveys have been performed over the years to assess the medical and social requirements of patients with a rare disease, but no studies have focused specifically on patients in Europe or with an inherite...

    Authors: Sylvia Sestini, Laura Paneghetti, Christina Lampe, Gianni Betti, Simon Bond, Cinzia Maria Bellettato and Scarpa Maurizio

    Citation: Orphanet Journal of Rare Diseases 2021 16:336

    Content type: Research

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  9. Tuberous sclerosis complex (TSC) is an autosomal dominant disease with systemic manifestations, which can cause significant mortality and morbidity. Population-based epidemiological studies on TSC mortality an...

    Authors: Jui-Hui Peng, Hung-Pin Tu and Chien-Hui Hong

    Citation: Orphanet Journal of Rare Diseases 2021 16:335

    Content type: Research

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  10. TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Although the haploinsufficiency of TBX1 in both m...

    Authors: Xuechao Jiang, Tingting Li, Sijie Liu, Qihua Fu, Fen Li, Sun Chen, Kun Sun, Rang Xu and Yuejuan Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:334

    Content type: Research

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  11. Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiri...

    Authors: Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin and Klaus Mohnike

    Citation: Orphanet Journal of Rare Diseases 2021 16:333

    Content type: Position statement

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  12. Evidence is conflicting regarding differential health outcomes in racial and ethnic minorities with cystic fibrosis (CF), a rare genetic disease affecting approximately 28,000 Americans. We performed a cross-s...

    Authors: Emily DiMango, Kaitlyn Simpson, Elizabeth Menten, Claire Keating, Weijia Fan and Cheng-Shiun Leu

    Citation: Orphanet Journal of Rare Diseases 2021 16:332

    Content type: Research

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  13. Mature B cell acute lymphoblastic leukaemia (BAL) is characterised by French–American–British (FAB)-L3 morphology and the presence of surface immunoglobulin (sIgM) light chain restriction. BAL is also consider...

    Authors: Yinghui Cui, Min Zhou, Pinli Zou, Xin Liao and Jianwen Xiao

    Citation: Orphanet Journal of Rare Diseases 2021 16:331

    Content type: Research

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  14. Studies regarding the impact of (neuro)inflammation and inflammatory response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in 5q-associated spinal muscular atrophy (SMA) ar...

    Authors: Maren Freigang, Petra Steinacker, Claudia Diana Wurster, Olivia Schreiber-Katz, Alma Osmanovic, Susanne Petri, Jan Christoph Koch, Kevin Rostásy, Björn Falkenburger, Albert Christian Ludolph, Markus Otto, Andreas Hermann and René Günther

    Citation: Orphanet Journal of Rare Diseases 2021 16:330

    Content type: Research

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  15. Authors: William R. Lumry, Bruce Zuraw, Marco Cicardi, Timothy Craig, John Anderson, Aleena Banerji, Jonathan A. Bernstein, Teresa Caballero, Henriette Farkas, Richard G. Gower, Paul K. Keith, Donald S. Levy, H. Henry Li, Markus Magerl, Michael Manning, Marc A. Riedl…

    Citation: Orphanet Journal of Rare Diseases 2021 16:329

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:86

  16. Systemic sclerosis (SSc) is a generalized disease of the connective tissue, arterioles, and microvessels, characterized by the appearance of fibrosis and vascular obliteration. There are two main phenotypical ...

    Authors: Eric Hachulla, Christian Agard, Yannick Allanore, Jerome Avouac, Brigitte Bader-Meunier, Alexandre Belot, Alice Berezne, Anne-Sophie Bouthors, Geraldine Condette-Wojtasik, Joël Constans, Pascal De Groote, Elisabeth Diot, Florence Dumas, Patrick Jego, Francisca Joly, David Launay…

    Citation: Orphanet Journal of Rare Diseases 2021 16(Suppl 2):322

    Content type: Position statement

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    This article is part of a Supplement: Volume 16 Supplement 2

  17. Rare diseases are estimated to affect 150–350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for ...

    Authors: Aaron Spahr, Zaliqa Rosli, Mélanie Legault, Luan T. Tran, Simon Fournier, Helia Toutounchi, Lama Darbelli, Cécile Madjar, Cassandra Lucia, Marie-Lou St-Jean, Samir Das, Alan C. Evans and Geneviève Bernard

    Citation: Orphanet Journal of Rare Diseases 2021 16:328

    Content type: Research

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  18. There are over 16.8 million rare disease patients in China, representing a large community that should not be neglected. While the public lack the awareness of their existence and difficult status quo, for one...

    Authors: Xuefeng Li, Meiling Liu, Jinduan Lin, Bingzhe Li, Xiangyu Zhang, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou and Li Ou

    Citation: Orphanet Journal of Rare Diseases 2021 16:327

    Content type: Research

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  19. Rare diseases (RDs) affect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classification. Clinical courses...

    Authors: Judith Leyens, Tim Th. A. Bender, Martin Mücke, Christiane Stieber, Dmitrij Kravchenko, Christian Dernbach and Matthias F. Seidel

    Citation: Orphanet Journal of Rare Diseases 2021 16:326

    Content type: Research

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  20. Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19. We aimed to assess prevalence and medical course of SARS-...

    Authors: Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber and Fabien Mourre

    Citation: Orphanet Journal of Rare Diseases 2021 16:325

    Content type: Research

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  21. Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation, caused by a deficiency of iduronate-2-sulfatase (I2S). Enzyme ...

    Authors: Marie Julianne C. Racoma, Maria Kristina Karizza B. Calibag, Cynthia P. Cordero, Mary Ann R. Abacan and Mary Anne D. Chiong

    Citation: Orphanet Journal of Rare Diseases 2021 16:323

    Content type: Research

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  22. The aim of this National Diagnostic and Care Protocol (PNDS) is to explain to the professionals involved the current optimal diagnosis and therapeutic management and care approach for a patient with Takayasu’s...

    Authors: David Saadoun, Alessandra Bura-Riviere, Chloé Comarmond, Marc Lambert, Alban Redheuil and Tristan Mirault

    Citation: Orphanet Journal of Rare Diseases 2021 16(Suppl 3):311

    Content type: Position statement

    Published on:

    This article is part of a Supplement: Volume 16 Supplement 3

  23. 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 16:321

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:208

  24. Citation: Orphanet Journal of Rare Diseases 2021 16:320

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:62

  25. LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. We ai...

    Authors: Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu…

    Citation: Orphanet Journal of Rare Diseases 2021 16:319

    Content type: Research

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  26. Normative data are necessary for validation of new outcome measures. Recently, the 95th centile of stride speed was qualified by the European Medicines Agency as a valid secondary outcome for clinical trials i...

    Authors: Margaux Poleur, Ana Ulinici, Aurore Daron, Olivier Schneider, Fabian Dal Farra, Marie Demonceau, Mélanie Annoussamy, David Vissière, Damien Eggenspieler and Laurent Servais

    Citation: Orphanet Journal of Rare Diseases 2021 16:318

    Content type: Research

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  27. Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently leading to impaired motor...

    Authors: Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard and Chahnez Triki

    Citation: Orphanet Journal of Rare Diseases 2021 16:317

    Content type: Research

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  28. The COVID-19 pandemic is adding an unanticipated concern for those affected by genetic diseases. Most of the new treatment achievements for these patients are made possible as a result of advances in viral-bas...

    Authors: Angel Aledo-Serrano, Antonio Gil-Nagel, Julian Isla, Ana Mingorance, Fernando Mendez-Hermida and Ruben Hernandez-Alcoceba

    Citation: Orphanet Journal of Rare Diseases 2021 16:316

    Content type: Letter to the Editor

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  29. Thalassaemia, a hereditary haemoglobin disorder, is a major public health concern in some parts of the world. Although Bangladesh is in the world’s thalassaemia belt, the information on this disease is scarce....

    Authors: Mohammad Sorowar Hossain, Md. Mahbub Hasan, Mary Petrou, Paul Telfer and Abdullah Al Mosabbir

    Citation: Orphanet Journal of Rare Diseases 2021 16:315

    Content type: Research

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  30. To evaluate the clinical efficacy of haploidentical haematopoietic stem cell transplantation (haplo-HSCT) for the treatment of malignant infantile osteopetrosis (MIOP) and intermediate osteopetrosis.

    Authors: Guanghua Zhu, Ang Wei, Bin Wang, Jun Yang, Yan Yan, Kai Wang, Chenguang Jia, Yanhui Luo, Sidan Li, Xuan Zhou, Tianyou Wang, Huyong Zheng and Maoquan Qin

    Citation: Orphanet Journal of Rare Diseases 2021 16:314

    Content type: Research

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  31. Parents of children with rare diseases often face uncertainty about diagnosis, treatment, and costs associated with healthcare for their child. Health insurance status impacts each of these areas, but no U.S. ...

    Authors: Tai L. S. Pasquini, Sarah L. Goff and Jennifer M. Whitehill

    Citation: Orphanet Journal of Rare Diseases 2021 16:313

    Content type: Research

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  32. Mucopolysaccharidoses are a group of lysosomal storage disorders that are caused by deficiency of enzymes involved in glycosaminoglycans degradation. Due to low prevalence and high childhood mortality, researc...

    Authors: Weijing Kong, Jing Zhang, Cheng Lu, Yingxue Ding and Yan Meng

    Citation: Orphanet Journal of Rare Diseases 2021 16:312

    Content type: Review

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  33. The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondri...

    Authors: Janet C. Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite and John Christodoulou

    Citation: Orphanet Journal of Rare Diseases 2021 16:310

    Content type: Research

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  34. The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to ...

    Authors: Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz and Rima Nabbout

    Citation: Orphanet Journal of Rare Diseases 2021 16:309

    Content type: Research

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  35. Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements f...

    Authors: William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello and Stephen Groft

    Citation: Orphanet Journal of Rare Diseases 2021 16:308

    Content type: Research

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  36. SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense vari...

    Authors: Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni and Roberta Battini

    Citation: Orphanet Journal of Rare Diseases 2021 16:307

    Content type: Research

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  37. PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subun...

    Authors: Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula and Kim M. Keppler-Noreuil

    Citation: Orphanet Journal of Rare Diseases 2021 16:306

    Content type: Review

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  38. Adolescents with idiopathic scoliosis display high ghrelin levels. As hyperghrelinemia is found in patients with PWS and early-onset scoliosis (EOS) is highly prevalent in these patients, our aims were to expl...

    Authors: Dibia Liz Pacoricona Alfaro, Gwenaelle Diene, Graziella Pinto, Jean-Pierre Salles, Isabelle Gennero, Sandy Faye, Catherine Molinas, Marion Valette, Catherine Arnaud and Maithé Tauber

    Citation: Orphanet Journal of Rare Diseases 2021 16:305

    Content type: Research

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  39. Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopa...

    Authors: Takashi Nakajima, Yoshiyuki Sankai, Shinjiro Takata, Yoko Kobayashi, Yoshihito Ando, Masanori Nakagawa, Toshio Saito, Kayoko Saito, Chiho Ishida, Akira Tamaoka, Takako Saotome, Tetsuo Ikai, Hisako Endo, Kazuhiro Ishii, Mitsuya Morita, Takashi Maeno…

    Citation: Orphanet Journal of Rare Diseases 2021 16:304

    Content type: Research

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  40. RASopathies are a group of syndromes showing clinical overlap caused by mutations in genes affecting the RAS-MAPK pathway. Consequent disruption on cellular signaling leads and is driven by phosphoproteome rem...

    Authors: Javier-Fernando Montero-Bullón, Óscar González-Velasco, María Isidoro-García and Jesus Lacal

    Citation: Orphanet Journal of Rare Diseases 2021 16:303

    Content type: Research

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  41. Birt–Hogg–Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, ...

    Authors: Elżbieta Radzikowska, Urszula Lechowicz, Jolanta Winek and Lucyna Opoka

    Citation: Orphanet Journal of Rare Diseases 2021 16:302

    Content type: Research

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  42. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and mino...

    Authors: Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson…

    Citation: Orphanet Journal of Rare Diseases 2021 16:301

    Content type: Research

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  43. Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. Mutations in one of five genes involved in plasmalogen biosynt...

    Authors: Tarik Luisman, Tara Smith, Shawn Ritchie and Karen E. Malone

    Citation: Orphanet Journal of Rare Diseases 2021 16:300

    Content type: Research

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  44. To evaluate the efficacy and safety of everolimus and sirolimus in patients with tuberous sclerosis complex-associated angiomyolipomas (TSC-AML).

    Authors: Cong Luo, Yu-Shi Zhang, Ming-Xin Zhang, Min-Feng Chen, Yuan Li, Lin Qi, Han-Zhong Li, Xiong-Bin Zu and Yi Cai

    Citation: Orphanet Journal of Rare Diseases 2021 16:299

    Content type: Research

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  45. Bronchoalveolar lavage (BAL) is one of the fundamental examinations for the differential diagnosis of interstitial lung diseases (ILDs), and lymphocytosis strongly indicates alternative diagnoses rather than i...

    Authors: Yasushi Horimasu, Kakuhiro Yamaguchi, Shinjiro Sakamoto, Takeshi Masuda, Shintaro Miyamoto, Taku Nakashima, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada and Noboru Hattori

    Citation: Orphanet Journal of Rare Diseases 2021 16:298

    Content type: Research

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  46. Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causin...

    Authors: Gilyazetdinov Kamil, Ju Young Yoon, Sukdong Yoo and Chong Kun Cheon

    Citation: Orphanet Journal of Rare Diseases 2021 16:297

    Content type: Research

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  47. Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and ...

    Authors: Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia and Xiao-Ping Xing

    Citation: Orphanet Journal of Rare Diseases 2021 16:296

    Content type: Research

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  48. No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge ...

    Authors: Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen and Saskia B. Wortmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:295

    Content type: Review

    Published on: