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  1. Gelsolin amyloidosis (AGel amyloidosis) is a hereditary form of systemic amyloidosis featuring ophthalmological, neurological and cutaneous symptoms. Previous studies based mainly on patients’ self-reporting h...

    Authors: Tuuli Mustonen, Ville Sivonen, Sari Atula, Sari Kiuru-Enari and Saku T. Sinkkonen

    Citation: Orphanet Journal of Rare Diseases 2021 16:448

    Content type: Research

    Published on:

  2. Tuberous Sclerosis Complex (TSC), a multi-system genetic disorder, is associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND). Individuals have apparently unique TAND profiles, challengin...

    Authors: Petrus J. de Vries, Loren Leclezio, Sugnet Gardner-Lubbe, Darcy Krueger, Mustafa Sahin, Steven Sparagana, Liesbeth De Waele and Anna Jansen

    Citation: Orphanet Journal of Rare Diseases 2021 16:447

    Content type: Research

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  3. Extremely rare progressive diseases like Sedaghatian-type Spondylometaphyseal Dysplasia (SSMD) can be neonatally lethal and therefore go undiagnosed or are difficult to treat. Recent sequencing efforts have li...

    Authors: Dorian M. Cheff, Alysson R. Muotri, Brent R. Stockwell, Edward E. Schmidt, Qitao Ran, Reena V. Kartha, Simon C. Johnson, Plavi Mittal, Elias S. J. Arnér, Kristen M. Wigby, Matthew D. Hall and Sanath Kumar Ramesh

    Citation: Orphanet Journal of Rare Diseases 2021 16:446

    Content type: Review

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  4. Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce...

    Authors: Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo and Ramón Cancho-Candela

    Citation: Orphanet Journal of Rare Diseases 2021 16:445

    Content type: Research

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  5. Rare diseases (RD) are a diverse collection of more than 7–10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across th...

    Authors: Ainslie Tisdale, Christine M. Cutillo, Ramaa Nathan, Pierantonio Russo, Bryan Laraway, Melissa Haendel, Douglas Nowak, Cindy Hasche, Chun-Hung Chan, Emily Griese, Hugh Dawkins, Oodaye Shukla, David A. Pearce, Joni L. Rutter and Anne R. Pariser

    Citation: Orphanet Journal of Rare Diseases 2021 16:429

    Content type: Research

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  6. Behçet’s disease (BD) can involve any site of the alimentary canal. There has been research concerning intestinal BD. Nevertheless, the entire digestive tract not yet been studied extensively. Therefore, the p...

    Authors: Jing-Fen Ye, Cheng-Cheng Hou, Hua-Fang Bao and Jian-Long Guan

    Citation: Orphanet Journal of Rare Diseases 2021 16:444

    Content type: Research

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  7. Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients wit...

    Authors: Shoko Onodera, Nana Morita, Yuriko Nakamura, Shinichi Takahashi, Kazuhiko Hashimoto, Takeshi Nomura, Akira Katakura, Kenjiro Kosaki and Toshifumi Azuma

    Citation: Orphanet Journal of Rare Diseases 2021 16:443

    Content type: Research

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  8. Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or ...

    Authors: Béatrice Thouvenin, Véronique Soupre, Marie-Anne Caillaud, Charlotte Henry-Mestelan, Christel Chalouhi, Bachar Houssamo, Cécile Chapuis, Katia Lind, Aurélie Royer, Nancy Vegas, Jeanne Amiel, Gérard Couly, Arnaud Picard, Laurence Vaivre-Douret and Véronique Abadie

    Citation: Orphanet Journal of Rare Diseases 2021 16:442

    Content type: Research

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  9. 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers render...

    Authors: Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill…

    Citation: Orphanet Journal of Rare Diseases 2021 16:441

    Content type: Research

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  10. Autosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar...

    Authors: Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Carmelo Schepis, Iria Neri, Daniele Castiglia, Giovanna Zambruno and May El Hachem

    Citation: Orphanet Journal of Rare Diseases 2021 16:440

    Content type: Research

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  11. Evidence on determinants of prices for orphan medicines is scarce and not available for Italy. The aim of this paper is to provide an evidence on variables affecting the annual treatment cost of orphan drugs i...

    Authors: Claudio Jommi, Elisabetta Listorti, Federico Villa, Simone Ghislandi, Armando Genazzani, Agnese Cangini and Francesco Trotta

    Citation: Orphanet Journal of Rare Diseases 2021 16:439

    Content type: Research

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  12. The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinic...

    Authors: Aslı İnci, İlyas Okur, Leyla Tümer, Gürsel Biberoğlu, Murat Öktem and Fatih Ezgü

    Citation: Orphanet Journal of Rare Diseases 2021 16:438

    Content type: Research

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  13. Wilson disease (WD) is a rare disease wherein copper accumulates in tissues, leading to hepatic degeneration, neurological impairments, and psychiatric symptoms. This study aimed to characterize the patient ex...

    Authors: Stella Karantzoulis, Karli Heuer, Nicole Sparling and Megan Teynor

    Citation: Orphanet Journal of Rare Diseases 2021 16:437

    Content type: Research

    Published on:

  14. As often seen in many chronic diseases, the disease impact on patients also induces a significant impact on the quality of life (QoL) of caregivers. Caregivers are the ones who are really willing to offer care...

    Authors: Rosaria Talarico, Diana Marinello, Arianna Manzo, Sara Cannizzo, Ilaria Palla, Simone Ticciati, Andrea Gaglioti, Leopoldo Trieste, Lorenzo Pisa, Luciano Badalamenti, Girolamo Randisi, Alessandra Del Bianco, Valentina Lorenzoni, Giuseppe Turchetti and Marta Mosca

    Citation: Orphanet Journal of Rare Diseases 2021 16:436

    Content type: Research

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  15. Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. Indeed, the quality of life in OI d...

    Authors: Antonella LoMauro, Carlo Vittorio Landoni, Paolo Fraschini, Franco Molteni, Andrea Aliverti, Simona Bertoli and Ramona De Amicis

    Citation: Orphanet Journal of Rare Diseases 2021 16:435

    Content type: Research

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  16. Indolent systemic mastocytosis (ISM) is a rare, clonal mast cell neoplasm characterized by severe, unpredictable symptoms. The Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) items compose a T...

    Authors: Brad Padilla, Alan L. Shields, Fiona Taylor, Xiaoran Li, Jeffrey Mcdonald, Tanya Green, Anthony L. Boral, Hui-Min Lin, Cem Akin, Frank Siebenhaar and Brenton Mar

    Citation: Orphanet Journal of Rare Diseases 2021 16:434

    Content type: Research

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  17. Charcot–Marie–Tooth disease type 1A (CMT1A) is a rare, orphan, hereditary neuromuscular disorder with no cure and for which only symptomatic treatment is currently available. A previous phase 2 trial has shown...

    Authors: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter…

    Citation: Orphanet Journal of Rare Diseases 2021 16:433

    Content type: Research

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  18. This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

    Authors: Isabelle Lessard, Raphaël St-Gelais, Luc J. Hébert, Isabelle Côté, Jean Mathieu, Bernard Brais and Cynthia Gagnon

    Citation: Orphanet Journal of Rare Diseases 2021 16:432

    Content type: Research

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  19. The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision...

    Authors: Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra…

    Citation: Orphanet Journal of Rare Diseases 2021 16:431

    Content type: Research

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  20. There is an increasing number of papers reporting the real world use of Nusinersen in different cohorts of SMA patients.

    Authors: Giorgia Coratti, Costanza Cutrona, Maria Carmela Pera, Francesca Bovis, Marta Ponzano, Fabrizia Chieppa, Laura Antonaci, Valeria Sansone, Richard Finkel, Marika Pane and Eugenio Mercuri

    Citation: Orphanet Journal of Rare Diseases 2021 16:430

    Content type: Review

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  21. Late-onset Pompe Disease (LOPD) is a rare, heterogeneous disease manifested by a range of symptoms varying in severity. Research establishing the frequency of these symptoms and their impact on patients’ daily...

    Authors: Alaa Hamed, Kristina An Haack, Chad Gwaltney, Eileen Baranowski, Andrew Stewart, Robert Krupnick, Margaret Tyler, Susan Sparks and Jean Paty

    Citation: Orphanet Journal of Rare Diseases 2021 16:428

    Content type: Research

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  22. Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. Since individuals with FD usually experience progressive clinical disease manifestations, their health-rela...

    Authors: Solrun Sigurdardottir, Birgitte Bjerkely, Trond G. Jenssen, Per Mathisen, Charlotte von der Lippe, Kristin Ørstavik, Ketil Heimdal, Dag Olav Dahle, Mina Susanne Weedon-Fekjær, Olga Solberg and Hege K. Pihlstrøm

    Citation: Orphanet Journal of Rare Diseases 2021 16:427

    Content type: Research

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  23. A virilizing ovarian tumor (VOT) is a rare cause of hyperandrogenism in pre- and postmenopausal women. Although transvaginal ultrasound is considered as the first-line imaging method for ovarian tumors, it is ...

    Authors: Mi Zou, Rong Chen, Yahong Wang, Yonglan He, Ying Wang, Yifan Dong and Jianchu Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:426

    Content type: Research

    Published on:

  24. X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at b...

    Authors: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni and Enrico Bertini

    Citation: Orphanet Journal of Rare Diseases 2021 16:425

    Content type: Research

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  25. Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. Despite diagnostic and therapeutic advances, it remains an important cause of morbidity, leading to neurolog...

    Authors: Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo, Carmen Campana, Silvia Maria Bernabei, Raffaella Cusmai, Antonella Mosca and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2021 16:424

    Content type: Research

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  26. Glycogen storage disease type I (GSD-I) is an autosomal recessive disorder of carbohydrate metabolism, resulting in limited production of glucose and excessive glycogen storage in the liver and kidneys. These ...

    Authors: Yi-Chia Chan, Kai-Min Liu, Chao-Long Chen, Aldwin D. Ong, Chih-Che Lin, Chee-Chien Yong, Pei-Chun Tsai, Liang-Suei Lu and Jer-Yuarn Wu

    Citation: Orphanet Journal of Rare Diseases 2021 16:423

    Content type: Research

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  27. Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the...

    Authors: Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy…

    Citation: Orphanet Journal of Rare Diseases 2021 16:422

    Content type: Research

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  28. Hypoparathyroidism (HypoPT) or pseudo-hypoparathyroidism (pseudo-HypoPT) during pregnancy may cause maternal and fetal/neonatal complications. In this regard, only a few case reports or case series of pregnant...

    Authors: Gemma Marcucci, Paola Altieri, Salvatore Benvenga, Marta Bondanelli, Valentina Camozzi, Filomena Cetani, Luisella Cianferotti, Mirko Duradoni, Caterina Fossi, Ettore degli Uberti, Fausto Famà, Giovanna Mantovani, Claudio Marcocci, Laura Masi, Uberto Pagotto, Andrea Palermo…

    Citation: Orphanet Journal of Rare Diseases 2021 16:421

    Content type: Research

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  29. To examine the impact of executive function disorders on health-related quality of life (QoL) in children with neurofibromatosis type 1 (NF1), we conducted a prospective single-center study among 40 children w...

    Authors: Arnaud Roy, Jean-Luc Roulin, Christèle Gras-Le Guen, Marie-Laure Corbat and Sébastien Barbarot

    Citation: Orphanet Journal of Rare Diseases 2021 16:420

    Content type: Research

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  30. Pleuroparenchymal fibroelastosis (PPFE) has a variable disease course with dismal prognosis in the majority of patients with no validated drug therapy. This study is to evaluate the effect of nintedanib in pat...

    Authors: Mouhamad Nasser, Salim Si-Mohamed, Ségolène Turquier, Julie Traclet, Kaïs Ahmad, François Philit, Philippe Bonniaud, Lara Chalabreysse, Françoise Thivolet-Béjui and Vincent Cottin

    Citation: Orphanet Journal of Rare Diseases 2021 16:419

    Content type: Research

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  31. Hemihyperplasia and hemihypoplasia result in leg length discrepancy (LLD) by causing skeletal asymmetry. Beckwith–Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS) are opposite growth-affecting disord...

    Authors: Chang Ho Shin, Chaemoon Lim, Hwa Young Kim, Won Joon Yoo, Tae-Joon Cho, In Ho Choi and Jung Min Ko

    Citation: Orphanet Journal of Rare Diseases 2021 16:418

    Content type: Research

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  32. Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. The goal of this study was to obtain detailed information on the co...

    Authors: Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong and Jian-She Wang

    Citation: Orphanet Journal of Rare Diseases 2021 16:417

    Content type: Research

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  33. 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is th...

    Authors: Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak and Chunxiu Gong

    Citation: Orphanet Journal of Rare Diseases 2021 16:416

    Content type: Research

    Published on:

  34. Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis. These rare and heterogeneous condit...

    Authors: Bruno Fattizzo, Juri Alessandro Giannotta, Nicola Cecchi and Wilma Barcellini

    Citation: Orphanet Journal of Rare Diseases 2021 16:415

    Content type: Review

    Published on:

  35. Advanced systemic mastocytosis (AdvSM), indolent systemic mastocytosis (ISM), and smoldering systemic mastocytosis (SSM) are rare diseases characterized by neoplastic mast cell infiltration of more than one or...

    Authors: Fiona Taylor, Cem Akin, Roger E. Lamoureux, Brad Padilla, Tanya Green, Anthony L. Boral, Iyar Mazar, Brenton Mar, Alan L. Shields and Frank Siebenhaar

    Citation: Orphanet Journal of Rare Diseases 2021 16:414

    Content type: Research

    Published on:

  36. Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in child...

    Authors: Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili…

    Citation: Orphanet Journal of Rare Diseases 2021 16:413

    Content type: Research

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  37. Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasi...

    Authors: Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo and Tero-Pekka Alastalo

    Citation: Orphanet Journal of Rare Diseases 2021 16:412

    Content type: Research

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  38. Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, le...

    Authors: David Adams, Vincent Algalarrondo, Michael Polydefkis, Nitasha Sarswat, Michel S. Slama and Jose Nativi-Nicolau

    Citation: Orphanet Journal of Rare Diseases 2021 16:411

    Content type: Position statement

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  39. Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of immune system dysfunction in a cohort of patients affec...

    Authors: M. A. Siano, V. Marchetti, S. Pagano, F. Di Candia, M. Alessio, D. De Brasi, A. De Luca, V. Pinna, S. Sestito, D. Concolino, M. Tartaglia, P. Strisciuglio, V. D’Esposito, S. Cabaro, G. Perruolo, P. Formisano…

    Citation: Orphanet Journal of Rare Diseases 2021 16:410

    Content type: Research

    Published on:

  40. Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the s...

    Authors: Panayiotis K. Yiallouros, Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, Artemios Demetriou, Phivos Ioannou, George A. Tanteles, Constantina Costi, Pavlos Fanis, Milan Macek, Vassos Neocleous and Leonidas A. Phylactou

    Citation: Orphanet Journal of Rare Diseases 2021 16:409

    Content type: Research

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  41. In 2001, Fondazione Telethon and the Italian muscular dystrophy patient organisation Unione Italiana Lotta alla Distrofia Muscolare joined their efforts to design and launch a call for grant applications speci...

    Authors: Anna Ambrosini, Danila Baldessari, Silvia Pozzi, Manuela Battaglia, Elena Beltrami, Anna Maria Merico, Marco Rasconi and Lucia Monaco

    Citation: Orphanet Journal of Rare Diseases 2021 16:408

    Content type: Review

    Published on:

  42. Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondr...

    Authors: Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí and Carmen Paradas

    Citation: Orphanet Journal of Rare Diseases 2021 16:407

    Content type: Review

    Published on:

  43. Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is bas...

    Authors: Amy Weisman, Jennifer M. Chan, Chantal LaPointe, Kaye Sjoholm, Kristy Steinau, Kaycie Artus, Suci Widhiati, Rebecca Bodan, Michelle Wood, Julio C. Salas-Alanis, Anna Carolina Rocha, Beata Faitli and Phuong Khuu

    Citation: Orphanet Journal of Rare Diseases 2021 16:406

    Content type: Review

    Published on:

  44. Sarcoidosis is a systemic granulomatous disease affecting different organs including the heart. Myocardial strain analysis could potentially detect the early stages of cardiac dysfunction in sarcoidosis patien...

    Authors: Roman Panovský, Martina Doubková, Mary Luz Mojica-Pisciotti, Tomáš Holeček, Jan Máchal, Věra Feitová, Lucia Masárová, Lukáš Opatřil, Vladimír Kincl and Jana Víšková

    Citation: Orphanet Journal of Rare Diseases 2021 16:405

    Content type: Research

    Published on:

  45. Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. Those living with BS have severe exercise intolerance, lethargy ...

    Authors: Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin and Guido Pieles

    Citation: Orphanet Journal of Rare Diseases 2021 16:404

    Content type: Research

    Published on:

  46. Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transp...

    Authors: Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian and Chanjuan Hao

    Citation: Orphanet Journal of Rare Diseases 2021 16:403

    Content type: Research

    Published on:

  47. Although the clinical efficacy of laminoplasty in adult cervical spondylotic myelopathy or ossification of posterior longitudinal ligament has been frequently reported, there are only few reports of laminoplas...

    Authors: Hidetomi Terai, Koji Tamai, Masatoshi Hoshino, Hiromitsu Toyoda, Akinobu Suzuki, Shinji Takahashi, Yusuke Hori, Akito Yabu and Hiroaki Nakamura

    Citation: Orphanet Journal of Rare Diseases 2021 16:401

    Content type: Research

    Published on:

  48. During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one. Consequently, although most physicians will face the d...

    Authors: Dariusz Walkowiak and Jan Domaradzki

    Citation: Orphanet Journal of Rare Diseases 2021 16:400

    Content type: Research

    Published on:

  49. Hereditary Angioedema (HAE) is a genetic disorder that leads to frequent angioedema attacks in various parts of the body. In most cases it is caused by pathogenic variants in the SERPING1 gene, coding for C1-Inhi...

    Authors: Toni M. Förster, Markus Magerl, Marcus Maurer, Selen Zülbahar, Susanne Zielke, Neil Inhaber, Donatello Crocetta, Arndt Rolfs and Volha Skrahina

    Citation: Orphanet Journal of Rare Diseases 2021 16:399

    Content type: Research

    Published on:

  50. Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-related) HH is well studied in European populations. Less is known about the clinical and laborator...

    Authors: Liyan Wu, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, Lina Wu, Shuxiang Li, Xiaoming Wang, Xinyan Zhao, Qianyi Wang, Min Li, Yu Wang, Hong You, Jian Huang…

    Citation: Orphanet Journal of Rare Diseases 2021 16:398

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172