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  1. The determinants of early-onset obesity (< 6 years) are not completely elucidated, however eating behavior has a central role. To date no study has explored eating behavior in children with severe, early-onset...

    Authors: Lara Arnouk, Hélène Chantereau, Sophie Courbage, Patrick Tounian, Karine Clément, Christine Poitou and Béatrice Dubern
    Citation: Orphanet Journal of Rare Diseases 2024 19:84
  2. Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on chromosome 15q11-13. PWS features a complex behavioral phenotype, including ...

    Authors: Elisabeth M. Dykens, Elizabeth Roof and Hailee Hunt-Hawkins
    Citation: Orphanet Journal of Rare Diseases 2024 19:83
  3. Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1. Many individuals affected b...

    Authors: Ilaria Ferrarotti, Marion Wencker and Joanna Chorostowska-Wynimko
    Citation: Orphanet Journal of Rare Diseases 2024 19:82
  4. One of the most relevant challenges for healthcare providers during the COVID– 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare disease...

    Authors: Sara Cannizzo, Vinciane Quoidbach, Paola Giunti, Wolfgang Oertel, Gregory Pastores, Maja Relja and Giuseppe Turchetti
    Citation: Orphanet Journal of Rare Diseases 2024 19:81
  5. Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juven...

    Authors: Shun-Chiao Chang, Aurore Bergamasco, Mélanie Bonnin, Teigna Arredondo Bisonó and Yola Moride
    Citation: Orphanet Journal of Rare Diseases 2024 19:80
  6. TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628)....

    Authors: Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer and Florian S. Eichler
    Citation: Orphanet Journal of Rare Diseases 2024 19:79
  7. The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in Türkiye regarding follow-up and treatment in order to provide data for future planning and i...

    Authors: Merve Esgi, Hakan Ergun, Nazmi Yalcin Kaya, Deniz Yilmaz Atakay, Ege Erucar and Fatma Celik
    Citation: Orphanet Journal of Rare Diseases 2024 19:78
  8. Although individually rare, collectively, rare conditions are common and affect a large number of people and are often chronic, life threatening and affect multiple body systems; the majority of them have no e...

    Authors: Jennifer Jones, Marie Cruddas, Amy Simpson, Nick Meade, Daphnee Pushparajah, Michelle Peter and Amy Hunter
    Citation: Orphanet Journal of Rare Diseases 2024 19:77
  9. Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction.

    Authors: Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao and Wenjuan Qiu
    Citation: Orphanet Journal of Rare Diseases 2024 19:75
  10. To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (...

    Authors: Eric Jonasch, Yan Song, Jonathan Freimark, Richard Berman, Ha Nguyen, James Signorovitch and Murali Sundaram
    Citation: Orphanet Journal of Rare Diseases 2024 19:73
  11. Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and w...

    Authors: Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo and Wei Zhang
    Citation: Orphanet Journal of Rare Diseases 2024 19:72
  12. Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD h...

    Authors: Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani and Gabriel Chodick
    Citation: Orphanet Journal of Rare Diseases 2024 19:71
  13. Parents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health difficulties, which vary between parents and within parents over time. The unde...

    Authors: Zhaotian Chi, Rory T. Devine, Jeanne Wolstencroft, David Skuse, Claire Hughes and Kate Baker
    Citation: Orphanet Journal of Rare Diseases 2024 19:70
  14. Prader–Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder resulting from absent paternal expression of maternally imprinted genes at chromosomal locus 15q11-13. This absence of expression o...

    Authors: Lucie C. S. Aman, Suzannah D. Lester, Anthony J. Holland and Paul C. Fletcher
    Citation: Orphanet Journal of Rare Diseases 2024 19:69
  15. Genetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical scholarship focusing on rare diseases and genetic information discusses quest...

    Authors: Antonia Modelhart, Dominique Sturz, Lydia Kremslehner and Barbara Prainsack
    Citation: Orphanet Journal of Rare Diseases 2024 19:68
  16. Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disease with widespread systemic manifestations and marked variability in clinical phenotypes. In this study, we sought to determine whet...

    Authors: Nigel S. Michki, Benjamin D. Singer, Javier V. Perez, Aaron J. Thomas, Valerie Natale, Kathryn A. Helmin, Jennifer Wright, Leon Cheng, Lisa R. Young, Howard M. Lederman and Sharon A. McGrath-Morrow
    Citation: Orphanet Journal of Rare Diseases 2024 19:67
  17. The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, ...

    Authors: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner…
    Citation: Orphanet Journal of Rare Diseases 2024 19:66
  18. Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 liv...

    Authors: Yannick Moutapam-Ngamby—Adriaansen, François Maillot, François Labarthe and Bertrand Lioger
    Citation: Orphanet Journal of Rare Diseases 2024 19:65
  19. People with Xeroderma Pigmentosum (XP) have a heightened sensitivity to ultraviolet radiation (UVR) and are advised to wear photoprotective clothing including a visor covering the face and neck. Photoprotectiv...

    Authors: Tanya Graham, Sangeeta Sooriah, Yan-Shing Chang, Shaikh Hashimdeen, Turgut Meydan and Patricia Grocott
    Citation: Orphanet Journal of Rare Diseases 2024 19:64
  20. Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is ...

    Authors: Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini and Luca Sangiorgi
    Citation: Orphanet Journal of Rare Diseases 2024 19:63
  21. In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients wit...

    Authors: Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer…
    Citation: Orphanet Journal of Rare Diseases 2024 19:62
  22. Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported. This paper describes the diverse mani...

    Authors: Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus and Anton Franken
    Citation: Orphanet Journal of Rare Diseases 2024 19:61
  23. The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care.

    Authors: Carmen Mesas Burgos, Willemijn Irvine, Alexandre Vivanti, Peter Conner, Egle Machtejeviene, Nina Peters, Joan Sabria, Ana Sanchez Torres, Costanza Tognon, Alberto Sgró, Antti Kouvisalo, Hester Langeveld-Benders, Rony Sfeir, Marc Miserez, Nils Qvist, Ausra Lokosiute-Urboniene…
    Citation: Orphanet Journal of Rare Diseases 2024 19:60
  24. Gene therapy has the potential to offer people with haemophilia (PwH) a life free from bleeding and the burden posed by current treatment regimens. To date, gene therapy has only been available in clinical tri...

    Authors: Simon Fletcher, Kathryn Jenner, Michael Holland and Kate Khair
    Citation: Orphanet Journal of Rare Diseases 2024 19:59
  25. Amyloidosis represents a rare yet heterogeneous multi-system disorder associated with a grave prognosis and an enormous psycho-emotional strain on patients, relatives, and caregivers. We here present the overa...

    Authors: Sandra Michaela Ihne-Schubert, Teresa Radovic, Saskia Fries, Stefan Frantz, Hermann Einsele, Stefan Störk and Silke Neuderth
    Citation: Orphanet Journal of Rare Diseases 2024 19:58
  26. Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an ultra-rare disease caused by mutations in the ABCB11 gene. This study aimed to understand the course of PFIC2 during the native liver period.

    Authors: Hiroki Kondou, Satoshi Nakano, Tadahaya Mizuno, Kazuhiko Bessho, Yasuhiro Hasegawa, Atsuko Nakazawa, Ken Tanikawa, Yoshihiro Azuma, Tatsuya Okamoto, Ayano Inui, Kazuo Imagawa, Mureo Kasahara, Yoh Zen, Mitsuyoshi Suzuki and Hisamitsu Hayashi
    Citation: Orphanet Journal of Rare Diseases 2024 19:57
  27. Pathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to sc...

    Authors: Yunyun Liu, Sha Liu, Jianlong Liu, Ting Bai, Xiaosha Jing, Cechuan Deng, Tianyu Xia, Jing Cheng, Lingling Xing, Xiang Wei, Yuan Luo, Quanfang Zhou, Dan Xie, Yueyue Xiong, Ling Liu, Qian Zhu…
    Citation: Orphanet Journal of Rare Diseases 2024 19:56
  28. Rare diseases affect approximately 400 million people worldwide. Many of them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need to be diagnosed as early as possible as potential tre...

    Authors: Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen and Anita Burgun
    Citation: Orphanet Journal of Rare Diseases 2024 19:55
  29. Patients with relapsing polychondritis (RP) sometimes experience upper airway collapse or lower airway stenosis, and bronchoscopy may provide a valuable typical image to confirm the diagnosis. This study aimed...

    Authors: Shao-Ting Wang, Jinglan Wang, Xiaoxing Gao, Keqi Chen, Kai-Feng Xu and Xinlun Tian
    Citation: Orphanet Journal of Rare Diseases 2024 19:54
  30. Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35. Although ...

    Authors: Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk and Zeynep Maraş Özdemir
    Citation: Orphanet Journal of Rare Diseases 2024 19:53
  31. We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific to MECP2 Duplication Syndrome (MDS) to be used in clinical trials.

    Authors: Davut Pehlivan, Sukru Aras, Daniel G. Glaze, Muharrem Ak, Bernhard Suter and Kathleen J. Motil
    Citation: Orphanet Journal of Rare Diseases 2024 19:52
  32. Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder that remains underdiagnosed and its clinical presentations and mutation profiles in a diverse population are yet to be evaluated. This retrospectiv...

    Authors: Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu and Jincai Feng
    Citation: Orphanet Journal of Rare Diseases 2024 19:51
  33. Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation muta...

    Authors: Kaiyang Song, Roshi Shrestha, Heather Delaney, Rohit Vijjhalwar, Alison Turner, Maria Sanchez and Muhammad Kassim Javaid
    Citation: Orphanet Journal of Rare Diseases 2024 19:50
  34. Fahr’s disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement dis...

    Authors: Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen and Huiberdina L Koek
    Citation: Orphanet Journal of Rare Diseases 2024 19:49
  35. Prader-Willi syndrome (PWS) is a complex genetic neurodevelopmental condition characterised by a range of debilitating and lifelong symptoms. The many physical and behavioural challenges that arise with adults...

    Authors: Brian M. Hughes, Anthony Holland, Norbert Hödebeck-Stuntebeck, Lynn Garrick, Anthony P. Goldstone, Mark Lister, Craig Moore and Marguerite Hughes
    Citation: Orphanet Journal of Rare Diseases 2024 19:48
  36. Health technology assessment (HTA) decisions for pharmaceuticals are complex and evolving. New rare disease treatments are often approved more quickly through accelerated approval schemes, creating more uncert...

    Authors: Victoria W. Dayer, Michael F. Drummond, Omar Dabbous, Mondher Toumi, Peter Neumann, Sean Tunis, Nelson Teich, Shadi Saleh, Ulf Persson, Johann-Matthias Graf von der Schulenburg, Daniel C. Malone, Tay Salimullah and Sean D. Sullivan
    Citation: Orphanet Journal of Rare Diseases 2024 19:47
  37. For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidel...

    Authors: Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner and Nicole I. Wolf
    Citation: Orphanet Journal of Rare Diseases 2024 19:46
  38. Protein phosphatase 2 regulatory subunit B’ Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gro...

    Authors: Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung and Jacqueline Montes
    Citation: Orphanet Journal of Rare Diseases 2024 19:45
  39. Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and re...

    Authors: Christopher A. Ours, Anna Buser, Mia B. Hodges, Marcus Y. Chen, Julie C. Sapp, Bernadette R. Gochuico and Leslie G. Biesecker
    Citation: Orphanet Journal of Rare Diseases 2024 19:44
  40. To describe the implementation of a registry system for patients with thyroid eye disease (TED) in Iran to obtain more information about its nature, prevalence, and annual incidence, as well as extend insight ...

    Authors: Shadi Akbarian, Abbas Sheikhtaheri, Farid Khorrami, Hossein Ghahvechian, Nasser Karimi and Mohsen Bahmani Kashkouli
    Citation: Orphanet Journal of Rare Diseases 2024 19:42
  41. Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectua...

    Authors: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova and Petr Kuglik
    Citation: Orphanet Journal of Rare Diseases 2024 19:41
  42. Amyotrophic lateral sclerosis (ALS) is an irreversible degenerative disease. Placebo-controlled randomized trials are currently the main trial design to assess the clinical efficacy of drugs for ALS treatment....

    Authors: Ruifen Cai, Juan Yang, Lijuan Wu, Yixiao Liu, Xinrui Wang, Qingshan Zheng and Lujin Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:40
  43. Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is...

    Authors: Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone and Matteo Cioni
    Citation: Orphanet Journal of Rare Diseases 2024 19:39
  44. Fabry disease is a rare progressive X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A. Agalsidase beta is a recombinant enzyme replacement therapy authorized...

    Authors: Renzo Mignani, Claudio Americo, Filippo Aucella, Yuri Battaglia, Vittoria Cianci, Annamaria Sapuppo, Chiara Lanzillo, Fabio Pennacchiotti, Luciano Tartaglia, Giacomo Marchi and Federico Pieruzzi
    Citation: Orphanet Journal of Rare Diseases 2024 19:38
  45. Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinas...

    Authors: Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe and Justin Hopkin
    Citation: Orphanet Journal of Rare Diseases 2024 19:36
  46. Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary disease characterized by diffuse gastrointestinal polyposis and ectodermal abnormalities. Although it has been proposed to be a chronic inflammatory con...

    Authors: Shuang Liu, Yunfei Zhi, Runfeng Zhang, Yan You, Wen You, Qiushi Xu, Jingnan Li and Ji Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:35
  47. Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals glob...

    Authors: Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes and Daniela Tropea
    Citation: Orphanet Journal of Rare Diseases 2024 19:34