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  1. Central diabetes insipidus (CDI) is a rare condition, with significant impact on patient health and well-being. It is a chronic condition which usually requires meticulous long-term care. It can affect both ch...

    Authors: H. Teare, J. Argente, M. Dattani, J. Leger, M. Maghnie, M. Sherlock, G.-C. Ali, J. Francombe and S. Marjanovic
    Citation: Orphanet Journal of Rare Diseases 2022 17:58
  2. Neurotrophic keratopathy (NK) is a rare, degenerative ocular disease characterized by reduction or loss of corneal sensitivity and development of non-healing corneal epithelial defects and ulcers. Cenegermin, ...

    Authors: Alice Bruscolini, Marco Marenco, Giuseppe Maria Albanese, Alessandro Lambiase and Marta Sacchetti
    Citation: Orphanet Journal of Rare Diseases 2022 17:57
  3. The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly receive a genetic diagnosis. Nonetheless, the awareness of the c...

    Authors: Elisabetta Indelicato, Michael Zech, Matthias Amprosi and Sylvia Boesch
    Citation: Orphanet Journal of Rare Diseases 2022 17:55
  4. This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician...

    Authors: Orlando Buendia, Sneha Shankar, Hadley Mahon, Connor Toal, Lara Menzies, Pradeep Ravichandran, Jane Roper, Jag Takhar, Rudy Benfredj and Will Evans
    Citation: Orphanet Journal of Rare Diseases 2022 17:54
  5. Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this t...

    Authors: Aldona Pietrzak, Bartlomiej Wawrzycki, Matthias Schmuth and Katarzyna Wertheim-Tysarowska
    Citation: Orphanet Journal of Rare Diseases 2022 17:53
  6. Myasthenia gravis (MG) is an autoimmune disorder that frequently affects females at reproductive age. Herein, we aimed to assess the associations of clinical factors with pregnancy-related outcome in MG.

    Authors: Manqiqige Su, Xiaoqing Liu, Liang Wang, Jie Song, Zhirui Zhou, Sushan Luo and Chongbo Zhao
    Citation: Orphanet Journal of Rare Diseases 2022 17:52
  7. Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better ...

    Authors: Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis…
    Citation: Orphanet Journal of Rare Diseases 2022 17:51
  8. DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair. There are no standardized diagnostic assays for the investigation...

    Authors: Ola Hammarsten, Anna Lyytikäinen, Sofia Thunström, Torben Ek, Anders Fasth, Olov Ekwall, Sara Cajander, Emilie Wahren Borgström, C. I. Edvard Smith and Pegah Johansson
    Citation: Orphanet Journal of Rare Diseases 2022 17:50
  9. Improving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that patients receive. We recently developed a taxonomy of different ways of co...

    Authors: Holly Walton, Amy Simpson, Angus I. G. Ramsay, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris and Naomi J. Fulop
    Citation: Orphanet Journal of Rare Diseases 2022 17:49
  10. Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death. Recently, new treatment modalities, including gene therap...

    Authors: Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin…
    Citation: Orphanet Journal of Rare Diseases 2022 17:48
  11. In individuals suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis often extends over many years. Factors contributing to delayed diagnosis include health care profes...

    Authors: Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Heuschmann, Christian Krauth, Monika Bullinger, Alexandra Berger, Mark Berneburg, Lilly Brandstetter, Anna Deibele, Jan Dieris-Hirche, Holm Graessner, Harald Gündel, Stephan Herpertz…
    Citation: Orphanet Journal of Rare Diseases 2022 17:47
  12. The international recommendations tend to avoid physical activity (PA) for patients with Marfan syndrome (MFS). However, exceptions have recently been made in the most recent recommendations for these patients...

    Authors: Steeve Jouini, Olivier Milleron, Ludivine Eliahou, Guillaume Jondeau and Damien Vitiello
    Citation: Orphanet Journal of Rare Diseases 2022 17:46
  13. To evaluate whether the quantification of fetal hemoglobin (Hb) Bart’s is useful for differentiation of α-thalassemia syndromes in the fetus and to characterize the fetal anemia associated with fetal α-hemoglo...

    Authors: Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Kanokwan Sanchaisuriya, Goonnapa Fucharoen and Supan Fucharoen
    Citation: Orphanet Journal of Rare Diseases 2022 17:45
  14. The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors. Given the wide range of NF symptoms and medical specialties involved ...

    Authors: Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin and Justin T. Jordan
    Citation: Orphanet Journal of Rare Diseases 2022 17:44
  15. Rare diseases (RD) are conditions that affect a small number of people and hence do not get the focus on government health priorities in a resource-constrained setting such as India. Therefore, it is essential...

    Authors: Mohua Chakraborty Choudhury and Pragya Chaube
    Citation: Orphanet Journal of Rare Diseases 2022 17:43
  16. Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatme...

    Authors: Derralynn A. Hughes, Patrício Aguiar, Olivier Lidove, Kathleen Nicholls, Albina Nowak, Mark Thomas, Roser Torra, Bojan Vujkovac, Michael L. West and Sandro Feriozzi
    Citation: Orphanet Journal of Rare Diseases 2022 17:42
  17. Reproductive planning is an emerging concern for women with inherited metabolic disease (IMD). Anticipatory guidance on contraception is necessary to prevent unintended pregnancies in this population. Few reso...

    Authors: Jessica I. Gold, Nina B. Gold, Diva D. DeLeon and Rebecca Ganetzky
    Citation: Orphanet Journal of Rare Diseases 2022 17:41
  18. There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Ne...

    Authors: G. Hamoy-Jimenez, H. A. Elahmar, M. Mendoza, R. H. Kim, V. Bril and C. Barnett
    Citation: Orphanet Journal of Rare Diseases 2022 17:40
  19. Non-Langerhans cell histiocytosis, including Erdheim–Chester disease (ECD), Rosai–Dorfman disease (RDD), indeterminate cell histiocytosis (ICH), and unclassified histiocytosis, is a rare disorder lacking a sta...

    Authors: Ting Liu, Hua-cong Cai, Hao Cai, Miao Chen, Wei Zhang, Jian Li, Dao-bin Zhou and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2022 17:39
  20. Individuals with proopiomelanocortin (POMC) or leptin receptor (LEPR) deficiency are young and experience severe obesity, hyperphagia, and comorbidities, which can impair quality of life (QOL).

    Authors: Peter Kühnen, Martin Wabitsch, Julia von Schnurbein, Costel Chirila, Usha G. Mallya, Patrick Callahan, Ari Gnanasakthy, Christine Poitou, Philipp M. Krabusch, Murray Stewart and Karine Clément
    Citation: Orphanet Journal of Rare Diseases 2022 17:38
  21. White matter lesions (WML) in multiple sclerosis (MS) differ from vascular WML caused by Fabry disease (FD). However, in atypical cases the discrimination can be difficult and may vary between individual rater...

    Authors: Jakob Rath, Olivia Foesleitner, Lukas Haider, Hubert Bickel, Fritz Leutmezer, Stephan Polanec, Michael A. Arnoldner, Gere Sunder-Plassmann, Daniela Prayer, Thomas Berger, Paulus Rommer and Gregor Kasprian
    Citation: Orphanet Journal of Rare Diseases 2022 17:37
  22. The extent to which different US private insurers require their enrollees to meet the same coverage criteria before gaining access to treatment is unclear. Our objective was to scrutinize the patient access cr...

    Authors: Nikoletta M. Margaretos, Komal Bawa, Natalie J. Engmann and James D. Chambers
    Citation: Orphanet Journal of Rare Diseases 2022 17:36
  23. Smith–Magenis syndrome (SMS) is a rare genetic syndrome associated with a unique profile of early morning waking and daytime sleepiness. Children with SMS evidence high rates of self-injury and aggression and ...

    Authors: Georgie Agar, Stacey Bissell, Lucy Wilde, Nigel Over, Caitlin Williams, Caroline Richards and Chris Oliver
    Citation: Orphanet Journal of Rare Diseases 2022 17:35
  24. Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomoc...

    Authors: Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta and Marco Spada
    Citation: Orphanet Journal of Rare Diseases 2022 17:33
  25. Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is publishe...

    Authors: Claudia Mighiu, Sonia O’Hara, Enrico Ferri Grazzi, Karen F. Murray, Jörn M. Schattenberg, Emily Ventura, Melanie Karakaidos, Alison Taylor, Harpreet Brrang, Anil Dhawan, Jose Willemse and Alan Finnegan
    Citation: Orphanet Journal of Rare Diseases 2022 17:32
  26. Enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA, alglucosidase alfa) has improved survival, motor outcomes, daily life activity and quality of life in Pompe patients. However, ...

    Authors: Harmke A. van Kooten, Imke A. M. Ditters, Marianne Hoogeveen-Westerveld, Edwin H. Jacobs, Johanna M. P. van den Hout, Pieter A. van Doorn, W. W. M. Pim Pijnappel, Ans T. van der Ploeg and Nadine A. M. E. van der Beek
    Citation: Orphanet Journal of Rare Diseases 2022 17:31
  27. In recent years, much progress has been made in understanding the mechanisms of bone growth and development over a lifespan, including the crosstalk between muscle and bone, to achieve optimal structure and fu...

    Authors: Francis H. Glorieux, Lynda F. Bonewald, Nicholas C. Harvey and Marjolein C. H. van der Meulen
    Citation: Orphanet Journal of Rare Diseases 2022 17:30
  28. Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malfo...

    Authors: Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos…
    Citation: Orphanet Journal of Rare Diseases 2022 17:29
  29. Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood. However, normative data for markers of physical capaci...

    Authors: Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat and David J. Tomlinson
    Citation: Orphanet Journal of Rare Diseases 2022 17:28
  30. Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based on its etiology as a deletion of the distal long arm of chromosome 22. These included terminal and interstitial deletions, ...

    Authors: Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny van Ravenswaaij-Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett Jr., Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro and Thomas Bourgeron
    Citation: Orphanet Journal of Rare Diseases 2022 17:27
  31. Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected chil...

    Authors: Florin Bösch, Nina A. Zeltner, Matthias R. Baumgartner, Martina Huemer and Markus A. Landolt
    Citation: Orphanet Journal of Rare Diseases 2022 17:26
  32. Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease ons...

    Authors: Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz and Tippi C. MacKenzie
    Citation: Orphanet Journal of Rare Diseases 2022 17:25
  33. Neurofibromatosis type 1 (NF1) is a common human genetic disease with age-dependent phenotype progression. The overview of clinical and radiological findings evaluated by whole-body magnetic resonance imaging ...

    Authors: Eungu Kang, Yoon-Myung Kim, Yunha Choi, Yena Lee, JunYoung Kim, In Hee Choi, Han-Wook Yoo, Hee Mang Yoon and Beom Hee Lee
    Citation: Orphanet Journal of Rare Diseases 2022 17:24
  34. Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Page...

    Authors: Manisha Korb, Allison Peck, Lindsay N. Alfano, Kenneth I. Berger, Meredith K. James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P. A. Mammen, Sujata Patel, Gerald Pfeffer, Stuart H. Ralston, Bhaskar Roy, William W. Seeley, Andrea Swenson…
    Citation: Orphanet Journal of Rare Diseases 2022 17:23
  35. Pregnancy and breastfeeding are associated with bone density loss. Fracture occurrence during pregnancy and post-partum, and its determinants, remain poorly known in Osteogenesis Imperfecta (OI). The aim of th...

    Authors: Eugénie Koumakis, Valérie Cormier-Daire, Azeddine Dellal, Marc Debernardi, Bernard Cortet, Françoise Debiais, Rose-Marie Javier, Thierry Thomas, Nadia Mehsen-Cetre, Martine Cohen-Solal, Elisabeth Fontanges, Michel Laroche, Valérie Porquet-Bordes, Christian Marcelli, Alexandra Benachi, Karine Briot…
    Citation: Orphanet Journal of Rare Diseases 2022 17:22
  36. The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5–12 years with Duchenne muscular dystrophy (DMD).

    Authors: Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni and Giovanni Baranello
    Citation: Orphanet Journal of Rare Diseases 2022 17:20
  37. Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks vi...

    Authors: Amanda Mortensen, Eva M. Raebel and Samantha Wiseman
    Citation: Orphanet Journal of Rare Diseases 2022 17:19
  38. Authors: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni and Enrico Bertini
    Citation: Orphanet Journal of Rare Diseases 2022 17:18

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:425

  39. Lysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies. Patients with LSDs suffer from a wide range of symptoms with a strong impact in their daily routine...

    Authors: Juan de Dios García-Díaz, Mónica López-Rodríguez, Montserrat Morales-Conejo and Antoni Riera-Mestre
    Citation: Orphanet Journal of Rare Diseases 2022 17:17
  40. Protracted febrile myalgia syndrome (PFMS) is a rare complication of Familial Mediterranean fever (FMF). The diagnosis is based on clinical symptoms and is often challenging, especially when PFMS is the initia...

    Authors: Neta Aviran, Gil Amarilyo, Yaniv Lakovsky, Rotem Tal, Jenny Garkaby, Rubi Haviv, Yosef Uziel, Shiri Spielman, Hamada Mohammad Natour, Yonatan Herman, Oded Scheuerman, Yonatan Butbul Aviel, Yoel Levinsky and Liora Harel
    Citation: Orphanet Journal of Rare Diseases 2022 17:15
  41. Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in chi...

    Authors: Trine Bathen, Heidi Johansen, Hilde Strømme and Gry Velvin
    Citation: Orphanet Journal of Rare Diseases 2022 17:14
  42. Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation o...

    Authors: R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig and A. Sanabria-Castro
    Citation: Orphanet Journal of Rare Diseases 2022 17:13
  43. The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID ha...

    Authors: Leire Solís, Julia Nordin, Johan Prevot, Nizar Mahlaoui, Silvia Sánchez-Ramón, Adli Ali, Elodie Cassignol, John W. Seymour and Martine Pergent
    Citation: Orphanet Journal of Rare Diseases 2022 17:11
  44. Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by several clinical symptoms including epistaxis, arteriovenous malformations (AVM), and telangiectasia. In 2018, Eu...

    Authors: Troels Hvelplund, Bibi Lange, Susanne Djernes Bird, Malene Korsholm and Anette Drøhse Kjeldsen
    Citation: Orphanet Journal of Rare Diseases 2022 17:8
  45. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with progressive motor system impairment, and recent evidence has identified the extra-motor involvement. Small fiber neuropathy reflec...

    Authors: Jiayu Fu, Ji He, Yixuan Zhang, Ziyuan Liu, Haikun Wang, Jiameng Li, Lu Chen and Dongsheng Fan
    Citation: Orphanet Journal of Rare Diseases 2022 17:7
  46. Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by ...

    Authors: Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds and Tarekegn Geberhiwot
    Citation: Orphanet Journal of Rare Diseases 2022 17:6