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  1. Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin–proteasome system that provides protein quality control. VCP-associated inclusion body myopath...

    Authors: Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith and Virginia Kimonis
    Citation: Orphanet Journal of Rare Diseases 2022 17:272
  2. Complex vascular malformations (VMs) are rare disorders that can cause pain, coagulopathy, disfigurement, asymmetric growth, and disability. Patients with complex VMs experience misdiagnosis, delayed diagnosis...

    Authors: Bryan A. Sisk, Anna Kerr and Katherine A. King
    Citation: Orphanet Journal of Rare Diseases 2022 17:271
  3. Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined ...

    Authors: M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier and A. H. Gostyński
    Citation: Orphanet Journal of Rare Diseases 2022 17:269
  4. Langerhans cell histiocytosis (LCH) is a myeloid dendritic cell disorder frequently affecting children more than adults. The presentation of LCH varies with age, however, the clinical characteristics and genet...

    Authors: Hua-cong Cai, Jia Chen, Ting Liu, Hao Cai, Ming-hui Duan, Jian Li, Dao-bin Zhou and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2022 17:268
  5. Malignant hyperthermia (MH) is a rare, hereditary disease with a hypermetabolic response to volatile anesthetics/succinylcholine. Susceptible patients face difficulties due to a lack of knowledge about MH. As ...

    Authors: Gislene Rodrigues, Pamela Vieira de Andrade, Joilson Moura dos Santos, José Luiz Gomes do Amaral and Helga Cristina Almeida da Silva
    Citation: Orphanet Journal of Rare Diseases 2022 17:265
  6. Oxidative stress is postulated to have a major role in the pathophysiology of Bechet’s Disease (BD). Growing evidence suggests that vitamin D has important roles in enhancing the expression of anti-inflammator...

    Authors: Heba S. Omar, Fatma Mohamed Taha, Suzanne Fouad, Fatma A. Ibrahim, Aliaa El Gendy, Iman H. Bassyouni and Reem El-Shazly
    Citation: Orphanet Journal of Rare Diseases 2022 17:264
  7. Previous studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, and a lower quality of life (QoL). The relationship with biological a...

    Authors: Kim F. E. van de Loo, Nander T. van Zeijl, José A. E. Custers, Mirian C. H. Janssen and Christianne M. Verhaak
    Citation: Orphanet Journal of Rare Diseases 2022 17:263
  8. Transthyretin cardiac amyloidosis, also known as transthyretin cardiomyopathy (ATTR-CM) is a poorly-recognized disease with delayed diagnosis and poor prognosis. This nationwide population-based study aimed to...

    Authors: Suk-Chan Jang, Jin Hyun Nam, Seung-Ah Lee, Dasom An, Hye-Lin Kim, Sun-Hong Kwon and Eui-Kyung Lee
    Citation: Orphanet Journal of Rare Diseases 2022 17:262
  9. Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently o...

    Authors: Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal…
    Citation: Orphanet Journal of Rare Diseases 2022 17(Suppl 1):261

    This article is part of a Supplement: Volume 17 Supplement 1

  10. Miridesap depletes circulating serum amyloid P (SAP) and dezamizumab (anti-SAP monoclonal antibody) targets SAP on amyloid deposits, triggering amyloid removal. In a phase 1, first-in-human study (FIHS), progr...

    Authors: Duncan Richards, Helen Millns, Louise Cookson and Mary Ann Lukas
    Citation: Orphanet Journal of Rare Diseases 2022 17:259
  11. Drugs for rare diseases (DRDs) offer important health benefits, but challenge traditional health technology assessment, reimbursement, and pricing processes due to limited effectiveness evidence. Recently, mod...

    Authors: Tania Stafinski, Judith Glennie, Andrea Young and Devidas Menon
    Citation: Orphanet Journal of Rare Diseases 2022 17:258
  12. Spontaneous pneumothorax has a high incidence and high rate of recurrence in patients with lymphangioleiomyomatosis (LAM). The risk factors for pneumothorax and the effects of sirolimus on pneumothorax in pati...

    Authors: Chongsheng Cheng, Wenshuai Xu, Yani Wang, Tengyue Zhang, Luning Yang, Wangji Zhou, Danjing Hu, Yanli Yang, Xinlun Tian and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2022 17:257
  13. Dietary management is the most important and effective treatment for citrin deficiency, as well as a decisive factor in the clinical outcome of patients. However, the dietary management ability of caregivers o...

    Authors: Shuxian Zhang, Yun Du, Lingli Cai, Meixue Chen, Yuanzong Song, Lilan He, Ni Gong and Qingran Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:256
  14. Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation manage...

    Authors: R. Gnasso, B. Corrado, I. Iommazzo, F. Migliore, G. Magliulo, B. Giardulli and C. Ruosi
    Citation: Orphanet Journal of Rare Diseases 2022 17:255
  15. Hemophilia is one of the commonest inherited bleeding disorders which may lead to chronic bleeding tendencies and life-long disabilities if not properly managed. Knowing the pattern of the disease aids in the ...

    Authors: Mohammed Nadimul Islam, Akhil Ranjon Biswas, Humayra Nazneen, Nobendu Chowdhury, Mahbubul Alam, Jayanta Banik, Md. Kamrul Hassan, Abdullah Az Zubayer Khan, Najmul Karim, Mohammad Jahid Hasan and Md. Abdullah Saeed Khan
    Citation: Orphanet Journal of Rare Diseases 2022 17:254
  16. This study explores and discusses the possible factors affecting the positive predictive value (PPV) of non-invasive prenatal screening (NIPS) for the detection of fetal copy number variants (CNVs) in pregnant...

    Authors: Wenli Wang, Fengying Lu, Bin Zhang, Qin Zhou, Yingping Chen and Bin Yu
    Citation: Orphanet Journal of Rare Diseases 2022 17:253
  17. MTOR inhibition is an effective treatment for many manifestations of tuberous sclerosis complex. Because mTOR inhibition is a disease modifying therapy, lifelong use will most likely be necessary. This study a...

    Authors: Femke V. M. Mulder, Evelien F. H. I. Peeters, Jan Westerink, Fried J. T. Zwartkruis and Wendela L. de Ranitz-Greven
    Citation: Orphanet Journal of Rare Diseases 2022 17:252
  18. Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficit of lysosomal hydrolases involved in the degradation of glycosaminoglycans (GAGs). The course is chronic and progres...

    Authors: Simona Sestito, Giada Rinninella, Angelica Rampazzo, Francesca D’Avanzo, Lucia Zampini, Lucia Santoro, Orazio Gabrielli, Agata Fiumara, Rita Barone, Nicola Volpi, Maurizio Scarpa, Rosella Tomanin and Daniela Concolino
    Citation: Orphanet Journal of Rare Diseases 2022 17:251
  19. During the coronavirus disease-19 (COVID-19) pandemic, vulnerable populations must be identified to prevent increased mortality. Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to chro...

    Authors: Christina Bothou, Lanja Saleh, Arnold von Eckardstein, Felix Beuschlein and Albina Nowak
    Citation: Orphanet Journal of Rare Diseases 2022 17:250
  20. Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been...

    Authors: Peikai Chen, Zhijia Tan, Anmei Qiu, Shijie Yin, Yapeng Zhou, Zhongxin Dong, Yan Qiu, Jichun Xu, Kangsen Li, Lina Dong, Hiu Tung Shek, Jingwen Liu, Eric H. K. Yeung, Bo Gao, Kenneth Man Chee Cheung and Michael Kai-Tsun To
    Citation: Orphanet Journal of Rare Diseases 2022 17:249
  21. Hyperinsulinism hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1, encoding glutamate dehydrogenase (GDH). Atypical absence seizures and neuropsychological disorders occur at high rates i...

    Authors: Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russell T. Shinohara, Ravinder Reddy, Kathryn A. Davis and Diva D. De León
    Citation: Orphanet Journal of Rare Diseases 2022 17:248

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:315

  22. X-linked early-onset osteoporosis, caused by mutations in plastin3 (PLS3), is an extremely rare disease characterized by low bone mineral density (BMD) and recurrent osteoporotic fractures. There is limited in...

    Authors: Zhichong Wu, Zhenhua Feng, Xiufen Zhu, Zhicheng Dai, Kaixing Min, Yong Qiu, Long Yi, Leilei Xu and Zezhang Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:247
  23. Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening thrombotic microangiopathy (TMA) requiring urgent treatment. Standardization of its diagnosis and optimal management is challenging. This s...

    Authors: I. Mancini, P. Agosti, M. Boscarino, B. Ferrari, A. Artoni, R. Palla, M. Spreafico, G. Crovetti, E. Volpato, S. Rossini, C. Novelli, S. Gattillo, L. Barcella, M. Salmoiraghi, A. Falanga and F. Peyvandi
    Citation: Orphanet Journal of Rare Diseases 2022 17:246
  24. Congenital pseudarthrosis of the tibia (CPT) is a rare disease occurring in children. The aim of this study is to identify the factors affecting bone union and re-fracture after surgery for CPT and to provide ...

    Authors: Zhuoyang Li, Hui Yu, Yiyong Huang, Yaoxi Liu, Guanghui Zhu, Qian Tan, Haibo Mei and Ge Yang
    Citation: Orphanet Journal of Rare Diseases 2022 17:245
  25. Williams syndrome (WS) and Autism Spectrum Disorders (ASD) are neurodevelopmental conditions associated with atypical but opposite face-to-face interactions patterns: WS patients overly stare at others, ASD in...

    Authors: Alice Gomez, Guillaume Lio, Manuela Costa, Angela Sirigu and Caroline Demily
    Citation: Orphanet Journal of Rare Diseases 2022 17:244
  26. Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients w...

    Authors: Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta and Pilar Rodríguez-Pombo
    Citation: Orphanet Journal of Rare Diseases 2022 17:243
  27. Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this populatio...

    Authors: S. Legoupil, D. Bessis, F. Picard, S. Mallet, J. Mazereeuw, A. Phan, D. Dupin-Deguine, M. Kalamarides and C. Chiaverini
    Citation: Orphanet Journal of Rare Diseases 2022 17:242
  28. Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but mus...

    Authors: Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici and Arianna Maiorana
    Citation: Orphanet Journal of Rare Diseases 2022 17:241
  29. In 10–15% of children with esophageal atresia (EA) delayed reconstruction of esophageal atresia (DREA) is necessary due to long-gap EA and/or prematurity/low birth weight. They represent a patient subgroup wit...

    Authors: Michaela Dellenmark-Blom, Sofie Örnö Ax, Elin Öst, Jan F. Svensson, Ann-Marie Kassa, Linus Jönsson, Kate Abrahamsson, Vladimir Gatzinsky, Pernilla Stenström, AnnaMaria Tollne, Erik Omling and Helene Engstrand Lilja
    Citation: Orphanet Journal of Rare Diseases 2022 17:239
  30. Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare dise...

    Authors: Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha and Roberto Giugliani
    Citation: Orphanet Journal of Rare Diseases 2022 17:238
  31. Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intro...

    Authors: Xuantong Dai, Xue Zong, Xiaoxia Pan, Wei Lu, Geng-Ru Jiang and Fujun Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:237
  32. Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral n...

    Authors: Angela Dispenzieri, Teresa Coelho, Isabel Conceição, Márcia Waddington-Cruz, Jonas Wixner, Arnt V. Kristen, Claudio Rapezzi, Violaine Planté-Bordeneuve, Juan Gonzalez-Moreno, Mathew S. Maurer, Martha Grogan, Doug Chapman and Leslie Amass
    Citation: Orphanet Journal of Rare Diseases 2022 17:236
  33. Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature an...

    Authors: Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri and Manuela Priolo
    Citation: Orphanet Journal of Rare Diseases 2022 17:235
  34. Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which resul...

    Authors: Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn and Maciej Machaczka
    Citation: Orphanet Journal of Rare Diseases 2022 17:234
  35. People living with rare disease often have protracted journeys towards diagnosis. In the last decade, programs have arisen around the world that are dedicated to ending this ‘diagnostic odyssey’, including the...

    Authors: Alicia Bauskis, Cecily Strange, Caron Molster and Colleen Fisher
    Citation: Orphanet Journal of Rare Diseases 2022 17:233
  36. Hereditary angioedema (HAE) is a genetic disorder characterized by re-occurring swelling episodes called “attacks,” usually in the limbs, face, airways, and intestinal tract. New prophylactic therapies have re...

    Authors: Milenka Jean-Baptiste, Robbin Itzler, Subhransu Prusty, Dylan Supina and Mona L. Martin
    Citation: Orphanet Journal of Rare Diseases 2022 17:232
  37. Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out...

    Authors: Emma Hector, Donald Cairns and G. Michael Wall
    Citation: Orphanet Journal of Rare Diseases 2022 17:231
  38. The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and ...

    Authors: Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard and Guida Landouré
    Citation: Orphanet Journal of Rare Diseases 2022 17:230
  39. Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriu...

    Authors: Martin Pesl, Hana Verescakova, Linda Skutkova, Jana Strenkova and Pavel Krejci
    Citation: Orphanet Journal of Rare Diseases 2022 17:229
  40. Inclusion body myositis (IBM) is a rare neuromuscular disease (NMD) and effective therapies are not available. Thus, it is relevant to determine the health-related quality of life (HRQoL) in IBM patients inclu...

    Authors: Katja C. Senn, Laura Gumbert, Simone Thiele, Sabine Krause, Maggie C. Walter and Klaus H. Nagels
    Citation: Orphanet Journal of Rare Diseases 2022 17:227
  41. Werner syndrome (WS) is an autosomal recessive premature ageing disease that causes accelerated ageing-like symptoms after puberty. Previous studies conducted in the late 2000s reported that malignant neoplasm...

    Authors: Hisaya Kato, Masaya Koshizaka, Hiyori Kaneko, Yoshiro Maezawa and Koutaro Yokote
    Citation: Orphanet Journal of Rare Diseases 2022 17:226
  42. Aberrations to endoplasmic/sarcoplasmic reticulum (ER/SR) calcium concentration can result in the departure of endogenous proteins in a phenomenon termed exodosis. Redistribution of the ER/SR proteome can have...

    Authors: Lacey K. Greer, Katherine G. Meilleur, Brandon K. Harvey and Emily S. Wires
    Citation: Orphanet Journal of Rare Diseases 2022 17:225
  43. Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia a...

    Authors: Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright and Svein O. Fredwall
    Citation: Orphanet Journal of Rare Diseases 2022 17:224
  44. Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include ...

    Authors: Fabiana Mallone, Luca Lucchino, Sandra Giustini, Alessandro Lambiase and Antonietta Moramarco
    Citation: Orphanet Journal of Rare Diseases 2022 17:223
  45. For extreme hereditary hemorrhagic telangiectasia (HHT) disease, treatments such as intravenous bevacizumab are often utilized. However, whether its efficacy is similar across diverse races and ethnicities is ...

    Authors: Panagis Galiatsatos, Cheri Wilson, Jaime O’Brien, Anna J. Gong, Dylan Angiolillo, James Johnson, Carlie Myers, Sara Strout, Stephen Mathai, Gina Robinson, Nicholas R. Rowan and Clifford R. Weiss
    Citation: Orphanet Journal of Rare Diseases 2022 17:220
  46. To investigate the clinical characteristics of patients with multiple endocrine neoplasia type 1 (MEN1)-related insulinoma and their relationship with specific biochemical changes and to summarize the features...

    Authors: Yuan Zhao, Jie Yu, Yiwen Liu, Lu Lyu, Fan Ping, Lingling Xu, Wei Li, Ou Wang, Qiang Xu, Wenming Wu, Huabing Zhang and Yuxiu Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:219