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  1. Aim to identify potential biomarkers to assess therapeutic efficacy for hereditary spastic paraplegias type 5 (SPG5) by investigating the clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI...

    Authors: Qianqian Lin, Ying Liu, Zhixian Ye, Jianping Hu, Wenjie Cai, Qiang Weng, Wan-Jin Chen, Ning Wang, Dairong Cao, Yi Lin and Ying Fu

    Citation: Orphanet Journal of Rare Diseases 2021 16:391

    Content type: Research

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  2. Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatmen...

    Authors: K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer, D. A. Marchuk, M. T. Lawton, T. Krings and M. E. Faughnan

    Citation: Orphanet Journal of Rare Diseases 2021 16:390

    Content type: Research

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  3. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and life-threatening intravascular hematologic disorder with significant morbidity and premature mortality. Clinical trials (NCT02946463 and NCT03056040) com...

    Authors: Carolyn E. Schwartz, Roland B. Stark, Katrina Borowiec, Sandra Nolte and Karl-Johan Myren

    Citation: Orphanet Journal of Rare Diseases 2021 16:389

    Content type: Research

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  4. Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective pe...

    Authors: Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes and Sirish Palle

    Citation: Orphanet Journal of Rare Diseases 2021 16:388

    Content type: Review

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  5. Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function. A lifelong therapy with the aminothiol cysteamine can d...

    Authors: Christina van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, Jürgen Grebe, Janine Reunert, Erik Harms and Thorsten Marquardt

    Citation: Orphanet Journal of Rare Diseases 2021 16:387

    Content type: Research

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  6. PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare condition due to a recurrent mutation in the PACS1 gene. Little systematically collected data exist about the functional abilities and neurodevelopme...

    Authors: Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean-Dominique Vassalli and Anne T. Berg

    Citation: Orphanet Journal of Rare Diseases 2021 16:386

    Content type: Research

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  7. Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders o...

    Authors: Mei Yao, Yu Xia, Yijie Feng, Ying Ma, Yi Hong, Yanyi Zhang, Jie Chen, Changzheng Yuan and Shanshan Mao

    Citation: Orphanet Journal of Rare Diseases 2021 16:385

    Content type: Research

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  8. Previous research has supported the utility of the Double ABCX model of family adaptation for parents in various diseases. Nonetheless, it remains unclear how raising a child with rare congenital surgical dise...

    Authors: Johannes Boettcher, Holger Zapf, Mareike Fuerboeter, Rojin Nazarian, Konrad Reinshagen, Silke Wiegand-Grefe and Michael Boettcher

    Citation: Orphanet Journal of Rare Diseases 2021 16:384

    Content type: Research

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  9. Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has ...

    Authors: Weihui Yan, Yongtao Xiao, Yunyi Zhang, Yijing Tao, Yi Cao, Kunhui Liu, Wei Cai and Ying Wang

    Citation: Orphanet Journal of Rare Diseases 2021 16:383

    Content type: Research

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  10. Mucopolysaccharidosis consists of a group of diseases caused by the deficiency of lysosomal enzymes, which may lead to the compression of the median nerve in the carpal tunnel due to the accumulation of glycos...

    Authors: Giana Silveira Giostri, Camila Deneka Arantes Souza, Alencar Kenji Nagai, Mara Lucia Schmitz Ferreira Santos, José Silvany Pacheco Sampaio Neto and Flavia David João de Masi Nassif

    Citation: Orphanet Journal of Rare Diseases 2021 16:382

    Content type: Research

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  11. Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with ...

    Authors: Laura D’Erasmo, Antonio Gallo, Angelo Baldassare Cefalù, Alessia Di Costanzo, Samir Saheb, Antonina Giammanco, Maurizio Averna, Alessio Buonaiuto, Gabriella Iannuzzo, Giuliana Fortunato, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci…

    Citation: Orphanet Journal of Rare Diseases 2021 16:381

    Content type: Research

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  12. Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe behavioural and sleep disturbances. Often, patients with SMS are diagnosed with at...

    Authors: A. R. Müller, J. R. Zinkstok, N. N. J. Rommelse, P. M. van de Ven, K. C. B. Roes, F. A. Wijburg, E. de Rooij-Askes, C. Linders, E. Boot and A. M. van Eeghen

    Citation: Orphanet Journal of Rare Diseases 2021 16:380

    Content type: Research

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  13. Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Aff...

    Authors: Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi and Orna Staretz-Chacham

    Citation: Orphanet Journal of Rare Diseases 2021 16:379

    Content type: Research

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  14. Coronavirus Disease 2019 (COVID-19) continues to have a devastating impact across the world. A number of pre-existing common clinical conditions were reported to represent risk factors for more severe COVID-19...

    Authors: Patrizia Suppressa, Fabio Pagella, Gennaro Mariano Lenato, Eleonora Gaetani, Ilaria Serio, Maristella Salvatora Masala, Giuseppe Spinozzi, Roberta Lizzio, Elina Matti, Annalisa De Silvestri, Giulio Cesare Passali, Maria Aguglia, Claudia Crocione and Carlo Sabbà

    Citation: Orphanet Journal of Rare Diseases 2021 16:378

    Content type: Research

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  15. Epidermolysis bullosa (EB) patient anecdotes and case reports indicate that cannabinoid-based medicines (CBMs) may alleviate pain and pruritus and improve wound healing. CBM use has not been characterized in t...

    Authors: Nicholas H. B. Schräder, Emily S. Gorell, Roy E. Stewart, José C. Duipmans, Nicole Harris, Victoria A. Perez, Jean Y. Tang, André P. Wolff and Marieke C. Bolling

    Citation: Orphanet Journal of Rare Diseases 2021 16:377

    Content type: Research

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  16. Patient data registries that are FAIR—Findable, Accessible, Interoperable, and Reusable for humans and computers—facilitate research across multiple resources. This is particularly relevant to rare diseases, w...

    Authors: Karlijn H. J. Groenen, Annika Jacobsen, Martijn G. Kersloot, Bruna dos Santos Vieira, Esther van Enckevort, Rajaram Kaliyaperumal, Derk L. Arts, Peter A. C. ‘t Hoen, Ronald Cornet, Marco Roos and Leo Schultze Kool

    Citation: Orphanet Journal of Rare Diseases 2021 16:376

    Content type: Research

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  17. Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) ...

    Authors: Ramona De Amicis, Giovanni Baranello, Andrea Foppiani, Alessandro Leone, Alberto Battezzati, Giorgio Bedogni, Simone Ravella, Ester Giaquinto, Chiara Mastella, Caterina Agosto, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Jonathan C. Wells, Mary Fewtrell…

    Citation: Orphanet Journal of Rare Diseases 2021 16:375

    Content type: Research

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  18. Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare dis...

    Authors: Tiziana Vaisitti, Daniela Peritore, Paola Magistroni, Andrea Ricci, Letizia Lombardini, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo…

    Citation: Orphanet Journal of Rare Diseases 2021 16:374

    Content type: Research

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  19. Hypohidrotic ectodermal dysplasia (HED) is a group of genodermatoses in which deficient ectodysplasin A signalling leads to maldevelopment of skin appendages, various eccrine glands, and teeth. Individuals wit...

    Authors: Verena Hennig, Wolfgang Schuh, Antje Neubert, Dirk Mielenz, Hans-Martin Jäck and Holm Schneider

    Citation: Orphanet Journal of Rare Diseases 2021 16:373

    Content type: Research

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  20. Vascular malformations in the central nervous system are difficult to monitor and treat due to their inaccessible location. Angiogenic and inflammatory proteins are secreted into the bloodstream and may serve ...

    Authors: Sarah E. Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Dewi Clark, Mark D. Starr, Yingmiao Liu, Helen Kim, Marie E. Faughnan, Andrew B. Nixon and Douglas A. Marchuk

    Citation: Orphanet Journal of Rare Diseases 2021 16:372

    Content type: Research

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  21. Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprise...

    Authors: Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas and Sarah C. Grünert

    Citation: Orphanet Journal of Rare Diseases 2021 16:371

    Content type: Research

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  22. To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chines...

    Authors: Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie and Xueyan Wu

    Citation: Orphanet Journal of Rare Diseases 2021 16:370

    Content type: Research

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  23. Neuromyelitis Optica Spectrum Disorders (NMOSD) are rare inflammatory diseases of the central nervous system that cause transverse myelitis and optic neuritis. Steroids are commonly administered in NMOSD patie...

    Authors: Xi Chen, Wenwei Qian, Guixing Qiu, Xisheng Weng, Jin Lin, Jin Jin, Shibai Zhu, Yiou Wang and Shanni Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:369

    Content type: Research

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  24. Alimentary tract duplications are rare congenital lesions, and only 2–8% of them are located in the stomach. Gastric duplications (GD) can lead to severe adverse events. Thus, surgical resection is required on...

    Authors: Yang Li, Chen Li, Hao Wu, Quan Wang, Zhi-Dong Gao, Xiao-Dong Yang, Ke-Wei Jiang and Ying-Jiang Ye

    Citation: Orphanet Journal of Rare Diseases 2021 16:368

    Content type: Research

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  25. In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe...

    Authors: Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann and Martina Huemer

    Citation: Orphanet Journal of Rare Diseases 2021 16:367

    Content type: Research

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  26. With the advent of whole exome (ES) and genome sequencing (GS) as tools for disease gene discovery, rare variant filtering, prioritization and data sharing have become essential components of the search for di...

    Authors: Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh and Nara Sobreira

    Citation: Orphanet Journal of Rare Diseases 2021 16:365

    Content type: Research

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  27. Transplantation is a saving therapeutic that has heavy consequences. The quality of life (QoL) of transplanted children and their parents has been little studied and should help physicians better manage these ...

    Authors: Pauline Duvant, Magali Fillat, Florentine Garaix, Bertrand Roquelaure, Caroline Ovaert, Virginie Fouilloux, Michel Tsimaratos, Pascal Auquier, Alexandre Fabre and Karine Baumstarck

    Citation: Orphanet Journal of Rare Diseases 2021 16:364

    Content type: Research

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  28. The genomic landscape of phyllodes tumors (PTs) of the breast is not well defined, especially in patients with advanced disease. To shed light on this topic, paired primary and progressed tumor samples from tw...

    Authors: Mattea Reinisch, Sherko Kuemmel, Elisabeth Breit, Ingo Theuerkauf, Hakima Harrach, Dorothea Schindowski, Detlef Moka, Marcus Bettstetter, Simona Bruzas and Ouafaa Chiari

    Citation: Orphanet Journal of Rare Diseases 2021 16:363

    Content type: Research

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  29. Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previously healthy children or adolescents, causing pharmacoresistant epilepsy, myoclonus and severe p...

    Authors: Federica Pondrelli, Lorenzo Muccioli, Laura Licchetta, Barbara Mostacci, Corrado Zenesini, Paolo Tinuper, Luca Vignatelli and Francesca Bisulli

    Citation: Orphanet Journal of Rare Diseases 2021 16:362

    Content type: Research

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  30. The threat and experience of pandemics occur differently for different groups. The rare disease population is at particular risk of being further marginalised during pandemics. In this study, our objective was...

    Authors: Claudia Ching Yan Chung, Wilfred Hing Sang Wong and Brian Hon Yin Chung

    Citation: Orphanet Journal of Rare Diseases 2021 16:361

    Content type: Research

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  31. Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasi...

    Authors: Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Icaro França Navarro Pinto, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina dos Santos Jorge, Emília Correia Souto, Paulo de Lima Serrano, Roberta Ismael Lacerda Machado, Marco Antônio Troccoli Chieia, Enrico Bertini and Acary Souza Bulle Oliveira

    Citation: Orphanet Journal of Rare Diseases 2021 16:360

    Content type: Research

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  32. In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG. Ou...

    Authors: Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt

    Citation: Orphanet Journal of Rare Diseases 2021 16:359

    Content type: Letter to the Editor

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  33. The diagnosis and health care of patients with rare diseases present a tremendous challenge worldwide. This study described the health care service utilization through participants’ perspective and estimated t...

    Authors: Xinye Qi, Jiao Xu, Linghan Shan, Ye Li, Yu Cui, Huan Liu, Kexin Wang, Lijun Gao, Zheng Kang and Qunhong Wu

    Citation: Orphanet Journal of Rare Diseases 2021 16:358

    Content type: Research

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  34. Ehlers-Danlos Syndrome (EDS) are a heterogeneous group of genetic connective tissue disorders, and typically manifests as weak joints that subluxate/dislocate, stretchy and/or fragile skin, organ/systems dysfu...

    Authors: Nimish Mittal, Daniel Santa Mina, Laura McGillis, Aliza Weinrib, P. Maxwell Slepian, Maxim Rachinsky, Stephanie Buryk-Iggers, Camille Laflamme, Laura Lopez-Hernandez, Laura Hussey, Joel Katz, Lianne McLean, Dmitry Rozenberg, Louis Liu, Yvonne Tse, Colleen Parker…

    Citation: Orphanet Journal of Rare Diseases 2021 16:357

    Content type: Position statement

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  35. Rare disease patient-reported outcome measures (PROMs) require linguistic adaptation to overcome the challenge of geographically dispersed patient populations. Importantly, PROMs such as health-related quality...

    Authors: Agnes Kocher, Mwidimi Ndosi, Kris Denhaerynck, Michael Simon, Andrew A. Dwyer, Oliver Distler, Kirsten Hoeper, Patrizia Künzler-Heule, Anthony C. Redmond, Peter M. Villiger, Ulrich A. Walker and Dunja Nicca

    Citation: Orphanet Journal of Rare Diseases 2021 16:356

    Content type: Research

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  36. Most patients with human T-cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) develop neurogenic bladder dysfunction. However, longitudinal changes and treatment effects re...

    Authors: Naoki Iijima, Junji Yamauchi, Naoko Yagishita, Natsumi Araya, Satoko Aratani, Kenichiro Tanabe, Tomoo Sato, Ayako Takata and Yoshihisa Yamano

    Citation: Orphanet Journal of Rare Diseases 2021 16:355

    Content type: Research

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  37. Osteomyelitis variolosa is a self-limiting disease triggered by variola virus that cannot be prevented or repaired. Smallpox has been eradicated for 40 years, and complications that remain after smallpox has b...

    Authors: Jinshuo Tang, Pu Shao, Te Liu, Xinggui Wen, Yeliang Wang, Chenyu Wang, Yachen Peng, Hua Yao and Jianlin Zuo

    Citation: Orphanet Journal of Rare Diseases 2021 16:354

    Content type: Review

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  38. Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay. Although early diagnosis and tr...

    Authors: Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel and Antonio Federico

    Citation: Orphanet Journal of Rare Diseases 2021 16:353

    Content type: Research

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  39. Health care transition (i.e., transition from pediatric to adult care) is challenging in chronic conditions but has been poorly studied in rare chronic skin diseases. We investigated the proportion of lost to ...

    Authors: Camille Vermersch, Olivia Boccara, Christine Chiaverini, Juliette Mazereeuw-Hautier, Nina Sigg, Stéphanie Mallet, Pierre Vabres, Denis Herbreteau, Anne Le Touze, Annabel Maruani and Sophie Leducq

    Citation: Orphanet Journal of Rare Diseases 2021 16:352

    Content type: Research

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  40. Currently, there is limited research on how having a child diagnosed with achondroplasia affects parents’ lives. The purpose of the study was to investigate the experiences of parents of infants and young chil...

    Authors: Kathryn M. Pfeiffer, Meryl Brod, Alden Smith, Dorthe Viuff, Sho Ota and R. Will Charlton

    Citation: Orphanet Journal of Rare Diseases 2021 16:351

    Content type: Research

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  41. Fibrodysplasia ossificans progressiva (FOP), an ultra-rare, progressive, and permanently disabling disorder of extraskeletal ossification, is characterized by episodic and painful flare-ups and irreversible he...

    Authors: Robert J. Pignolo, Edward C. Hsiao, Genevieve Baujat, David Lapidus, Adam Sherman and Frederick S. Kaplan

    Citation: Orphanet Journal of Rare Diseases 2021 16:350

    Content type: Research

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  42. Sensorineural hearing loss in beta-thalassemia is common and it is generally associated with iron chelation therapy. However, data are scarce, especially on adult populations, and a possible involvement of the...

    Authors: Renzo Manara, Sara Ponticorvo, Silverio Perrotta, Maria Rosaria Barillari, Giuseppe Costa, Davide Brotto, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Pasquale Alessandro Carafa, Antonietta Canna, Andrea Gerardo Russo, Donato Troisi, Martina Caiazza, Federica Ammendola, Domenico Roberti…

    Citation: Orphanet Journal of Rare Diseases 2021 16:349

    Content type: Research

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  43. Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-...

    Authors: Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, Chia-Chen Chang, Wei-Sheng Lin, Hsiu-Lien Cheng, Shang-Liang Wu, Yen-Fu Cheng and Dau-Ming Niu

    Citation: Orphanet Journal of Rare Diseases 2021 16:348

    Content type: Research

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  44. Interleukin-10 (IL-10) is an independent factor for predicting adverse outcomes in pediatric patients with hemophagocytic lymphohistiocytosis (HLH). However, little is known about its prognostic value in adult...

    Authors: Yulan Zhou, Fancong Kong, Shixuan Wang, Min Yu, Yawen Xu, Jing Kang, Songtao Tu and Fei Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:347

    Content type: Research

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  45. Acute hepatic porphyria (AHP) is a rare, debilitating disease characterized by potentially life-threatening attacks often resulting in chronic symptoms that negatively impact daily functioning and quality of l...

    Authors: Mark P. Connolly, Nikos Kotsopoulos, Sebastian Vermeersch, Julien Patris and David Cassiman

    Citation: Orphanet Journal of Rare Diseases 2021 16:346

    Content type: Research

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  46. In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of...

    Authors: Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach…

    Citation: Orphanet Journal of Rare Diseases 2021 16:345

    Content type: Research

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  47. 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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  48. 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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