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  1. Since the beginning of human genetic research, there are very few publications sharing insights of the negative impact of rare genetic skin diseases (RGSD) on patients’ experiences. This systematic review asse...

    Authors: Hugo Fournier, Nicolas Calcagni, Fanny Morice-Picard and Bruno Quintard
    Citation: Orphanet Journal of Rare Diseases 2023 18:39
    Content type: Review Published on:

  2. Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this ma...

    Authors: Carmen Liy-Wong, Cristina Tarango, Elena Pope, Thomas Coates, Anna L. Bruckner, James A. Feinstein, Agnes Schwieger-Briel, Lynne D. Hubbard, Clapham Jane, Mauricio Torres-Pradilla, Matija Zmazek and Irene Lara-Corrales
    Citation: Orphanet Journal of Rare Diseases 2023 18:38
    Content type: Review Published on:

  3. Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize availa...

    Authors: Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani and Christel Tran
    Citation: Orphanet Journal of Rare Diseases 2023 18:37
    Content type: Research Published on:

  4. Osteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and skeletal deformities. Extra-skeletal manifestations include dentinogenes...

    Authors: Darran Mc Donald, Tara Mc Donnell, Julie Martin-Grace, Gerry Mc Manus and Rachel K. Crowley
    Citation: Orphanet Journal of Rare Diseases 2023 18:36
    Content type: Research Published on:

  5. Symptomatic spinal stenosis is a prevalent complication in adults with achondroplasia. Increased muscle fat infiltration (MFI) and reduced thigh muscle volumes have also been reported, but the pathophysiology ...

    Authors: Svein O. Fredwall, Jennifer Linge, Olga de Vries, Olof Dahlqvist Leinhard, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Mikael Petersson, Per Widholm, Grethe Månum and Ravi Savarirayan
    Citation: Orphanet Journal of Rare Diseases 2023 18:35
    Content type: Research Published on:

  6. Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to ca...

    Authors: Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince and Oliver Semler
    Citation: Orphanet Journal of Rare Diseases 2023 18:34
    Content type: Review Published on:

  7. Long-term sequelae are frequent and often disabling after epidermal necrolysis (Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN)). However, consensus on the modalities of management of these...

    Authors: S. Ingen-Housz-Oro, V. Schmidt, M. M. Ameri, R. Abe, A. Brassard, A. Mostaghimi, A. S. Paller, A. Romano, B. Didona, B. H. Kaffenberger, B. Ben Said, B. Y. H. Thong, B. Ramsay, E. Brezinova, B. Milpied, C. G. Mortz…
    Citation: Orphanet Journal of Rare Diseases 2023 18:33
    Content type: Position statement Published on:

  8. Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new diseas...

    Authors: Berenike Leibrock, Erik Landfeldt, Justine Hussong, Tabea Huelle, Hannah Mattheus, Simone Thiele, Maggie C. Walter, Michael Zemlin, Eva Moehler, Ullrich Dillman, Sophia Abner and Marina Flotats-Bastardas
    Citation: Orphanet Journal of Rare Diseases 2023 18:32
    Content type: Research Published on:

  9. The objective of the study was to elaborate a conceptual framework related to the domains of patient experience along the cystic fibrosis (CF) journey from the patients and parents of children with CF to infor...

    Authors: D. Pougheon Bertrand, A. Fanchini, P. Lombrail, G. Rault, A. Chansard, N. Le Breton, C. Frenod, F. Milon, C. Heymes Royer, D. Segretain, M. Silber, S. Therouanne, J. Haesebaert, C. Llerena, P. Michel and Q. Reynaud
    Citation: Orphanet Journal of Rare Diseases 2023 18:31
    Content type: Research Published on:

  10. Intrathecal injection of medications can be challenging in spinal muscular atrophy (SMA) patients with severe scoliosis or after spine surgery. Here we report our experience with real-time ultrasound (US)-guid...

    Authors: Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen and Hui Xiong
    Citation: Orphanet Journal of Rare Diseases 2023 18:30
    Content type: Research Published on:

  12. Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease pa...

    Authors: Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato…
    Citation: Orphanet Journal of Rare Diseases 2023 18:28
    Content type: Research Published on:

  13. Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase acti...

    Authors: Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile and Mariasanta Napolitano
    Citation: Orphanet Journal of Rare Diseases 2023 18:27
    Content type: Review Published on:

  14. X-linked hypophosphataemia (XLH) is a rare genetic condition passed on through the X chromosome which causes multiple symptoms including weakened teeth, bones, and muscles. Due to the rarity of the condition, ...

    Authors: Sophie Cole, Maria T. Sanchez-Santos, Spyros Kolovos, Muhammad Kassim Javaid and Rafael Pinedo-Villanueva
    Citation: Orphanet Journal of Rare Diseases 2023 18:26
    Content type: Research Published on:

  15. Prader–Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human ...

    Authors: Ying Gao, Li-Li Yang, Yang-Li Dai, Zheng Shen, Qiong Zhou and Chao-Chun Zou
    Citation: Orphanet Journal of Rare Diseases 2023 18:25
    Content type: Research Published on:

  16. Autoantibodies against C1-inhibitor (C1-INH-Ab) have a diagnostic value in acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE), even though antibodies can circulate in complexes, which can be undet...

    Authors: Zsofia Polai, Erika Kajdacsi, Laszlo Cervenak, Zsuzsanna Balla, Szabolcs Benedek, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2023 18:24
    Content type: Research Published on:

  17. The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was ...

    Authors: Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro and Bart Loeys
    Citation: Orphanet Journal of Rare Diseases 2023 18:23
    Content type: Research Published on:

  18. Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to systematic...

    Authors: Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain and Mashael Al-Shafai
    Citation: Orphanet Journal of Rare Diseases 2023 18:22
    Content type: Review Published on:

  20. Pre-clinical research and development relies heavily upon translationally valid models of disease. A major difficulty in understanding the biology of, and developing treatments for, rare disease is the lack of...

    Authors: Eric J. Vallender, Charlotte E. Hotchkiss, Anne D. Lewis, Jeffrey Rogers, Joshua A. Stern, Samuel M. Peterson, Betsy Ferguson and Ken Sayers
    Citation: Orphanet Journal of Rare Diseases 2023 18:20
    Content type: Review Published on:

  21. Huntington’s disease is a complex neurodegenerative hereditary disease with symptoms in all domains of a person’s functioning. It begins after a healthy start in life and leads through the relentless progressi...

    Authors: Alzbeta Mühlbӓck, Marleen van Walsem, Martha Nance, Astri Arnesen, Kirsty Page, Alexandra Fisher, Manon van Kampen, Angela Nuzzi, Roy Limpert, Hanne Ludt Fossmo, Travis Cruickshank and Ruth Veenhuizen
    Citation: Orphanet Journal of Rare Diseases 2023 18:19
    Content type: Position statement Published on:

  22. Rare bone diseases (RBDs) are a set of inherited rare diseases that can cause disability and have a devastating impact on families affected, which may lead to a particular high prevalence of psychological diso...

    Authors: Xuefeng Lai, Yuling Jiang, Yue Sun, Zhijun Zhang and Shengfeng Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:18
    Content type: Research Published on:

  23. Hereditary transthyretin amyloidosis (ATTRv) is an ultra-rare, life-shortening disease with a high unmet need. This study examined ATTRv caregiver health-related quality of life (HRQoL) and productivity.

    Authors: Sarah Acaster, Siu Hing Lo and Sandra Nestler-Parr
    Citation: Orphanet Journal of Rare Diseases 2023 18:17
    Content type: Research Published on:

  24. Phenylalanine-free infant formula is an essential source of safe protein in a phenylalanine restricted diet, but its efficacy is rarely studied. We report a multicentre, open, longitudinal, prospective interve...

    Authors: Ozlem Yilmaz, Barbara Cochrane, Jo Wildgoose, Alex Pinto, Sharon Evans, Anne Daly, Catherine Ashmore and Anita MacDonald
    Citation: Orphanet Journal of Rare Diseases 2023 18:16
    Content type: Research Published on:

  27. Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid...

    Authors: Tiziano Pramparo, Robert D. Steiner, Steve Rodems and Celia Jenkinson
    Citation: Orphanet Journal of Rare Diseases 2023 18:13
    Content type: Research Published on:

  28. Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in pa...

    Authors: Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément and Andrea M. Haqq
    Citation: Orphanet Journal of Rare Diseases 2023 18:12
    Content type: Research Published on:

  29. Mutations in the GATOR1 complex genes, DEPDC5 and NPRL3, play a major role in the development of lesional and non-lesional focal epilepsy through increased mTORC1 signalling. We aimed to assess the effects of ...

    Authors: Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta and Jean-François Lepage
    Citation: Orphanet Journal of Rare Diseases 2023 18:11
    Content type: Research Published on:

  30. Cystic lymphatic malformations (LMs) are rare chronic conditions which management differs according to the type (macrocystic LMs, microcystic LMs or both). Studies are lacking due to rarity of the pathology. W...

    Authors: Nicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, Anne Dompmartin, Laurent Guibaud, Christine Labreze, Jacques Lagier, Bénédicte Lebrun-Vignes, Denis Herbreteau, Aline Joly, Julie Malloizel-Delaunay, Arnaud Martel, Stéphane Munck, Frédérique Saint-Aubin and Annabel Maruani
    Citation: Orphanet Journal of Rare Diseases 2023 18:10
    Content type: Review Published on:

  31. Although neurological manifestations and changes in brain volumes have been described in Erdheim-Chester disease (ECD), it remains unknown whether ECD may be associated with psychiatric symptoms and cognitive ...

    Authors: Charlotte Soumet-Leman, Jean-Yves Rotge, Pauline Delavaud, Zahir Amoura, Fleur Cohen-Aubart and Julien Haroche
    Citation: Orphanet Journal of Rare Diseases 2023 18:9
    Content type: Letter to the Editor Published on:

  32. Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that fem...

    Authors: Rosario Sánchez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero and Roser Torra
    Citation: Orphanet Journal of Rare Diseases 2023 18:8
    Content type: Research Published on:

  33. The Chronic Care Model (CCM) is a longstanding and widely adopted model guiding chronic illness management. Little is known about how CCM elements are implemented in rare disease care or how patients’ care exp...

    Authors: Agnes Kocher, Michael Simon, Andrew A. Dwyer, Catherine Blatter, Jasmina Bogdanovic, Patrizia Künzler-Heule, Peter M. Villiger, Diana Dan, Oliver Distler, Ulrich A. Walker and Dunja Nicca
    Citation: Orphanet Journal of Rare Diseases 2023 18:7
    Content type: Research Published on:

  35. Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebr...

    Authors: Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman and Jessica Pacey
    Citation: Orphanet Journal of Rare Diseases 2023 18:5
    Content type: Review Published on:

  36. The present study aims to assess clinical and regulatory variables that would influence pricing and reimbursement (P&R) decisions for Orphan Drugs (ODs) in Spain. ODs approved by the European Commission (EC) b...

    Authors: José Luis Poveda, Claudia Gómez, Alicia Gil and Xavier Badia
    Citation: Orphanet Journal of Rare Diseases 2023 18:4
    Content type: Research Published on:

  37. Neurofibromatosis type 2 (NF2) is a rare genetic disease that causes a wide range of disabilities leading to compromised quality of life (QOL). There is clear need for a validated disease-specific tool to asse...

    Authors: Anna Cecilia Lawson McLean, Anna Freier, Aaron Lawson McLean, Johannes Kruse and Steffen Rosahl
    Citation: Orphanet Journal of Rare Diseases 2023 18:3
    Content type: Research Published on:

  39. Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment. In order to develop a successful approved therapy of AKU multiple barriers had to be overcome. These included activ...

    Authors: L. R. Ranganath and Nick Sireau
    Citation: Orphanet Journal of Rare Diseases 2023 18:1
    Content type: Review Published on:

  40. Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese population remain scarce.

    Authors: Wei-Ting Tu, Ping-Chen Hou, Peng-Chieh Chen, Wan-Rung Chen, Hsin-Yu Huang, Jing-Yu Wang, Yi-Ting Huang, Yi-Huei Wu, Chun-Lin Su, Yen-An Tang, Hiroaki Iwata, Ken Natsuga, Sheau-Chiou Chao, H. Sunny Sun, Ming-Jer Tang, Julia Yu-Yun Lee…
    Citation: Orphanet Journal of Rare Diseases 2022 17:451
    Content type: Research Published on:

  41. Limb-girdle muscular dystrophy (LGMD) is a rare neuromuscular disease including a growing and heterogeneous number of subtypes with variable phenotype. Their clinical and histopathological characteristics freq...

    Authors: José Luis García-Giménez, Elena R. García-Trevijano, Ana I. Avilés-Alía, José Santiago Ibañez-Cabellos, Miquel Bovea-Marco, Teresa Bas, Federico V. Pallardó, Juan R. Viña and Rosa Zaragozá
    Citation: Orphanet Journal of Rare Diseases 2022 17:450
    Content type: Research Published on:

  42. The COVID-19 pandemic is affecting many areas of life and has posed additional strains on the highly vulnerable group of caregivers of children with rare diseases (RDs). The psychosocial situation of the famil...

    Authors: Lydia Rihm, Mareike Dreier, Farhad Rezvani, Silke Wiegand-Grefe and Jörg Dirmaier
    Citation: Orphanet Journal of Rare Diseases 2022 17:449
    Content type: Research Published on:

  43. Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS re...

    Authors: Nathalie Guffon, Delphine Genevaz, Didier Lacombe, Eliane Le Peillet Feuillet, Pascale Bausson, Esther Noel, François Maillot, Nadia Belmatoug and Roland Jaussaud
    Citation: Orphanet Journal of Rare Diseases 2022 17:448
    Content type: Research Published on:

  44. Wiskott–Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the WAS protein (WASp) due to mutations in the WAS gene, and is generally characterized by microthrombo...

    Authors: Xin Ji, Xuening Hou, Xin Guo, Yifeng Sun, Futian Ma and Jihong Hao
    Citation: Orphanet Journal of Rare Diseases 2022 17:447
    Content type: Research Published on:

  45. To investigate the prevalence and prenatal diagnosis rate of chromosomal abnormalities (CA) in Zhejiang Province, China.

    Authors: Xinning Chen, Dan Lin, Yinghui Ye, Xiaohui Zhang and Danqing Chen
    Citation: Orphanet Journal of Rare Diseases 2022 17:446
    Content type: Research Published on:

  46. Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disease caused by pathogenic variants of the gene ABCB4. This study aimed to investigate the ABCB4 genotypic and the clinical...

    Authors: Rong Chen, Feng-Xia Yang, Yan-Fang Tan, Mei Deng, Hua Li, Yi Xu, Wen-Xian Ouyang and Yuan-Zong Song
    Citation: Orphanet Journal of Rare Diseases 2022 17:445
    Content type: Research Published on:

  47. Despite optimal conventional treatment (oral phosphate supplements and active vitamin D analogs), about 40–50% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, makin...

    Authors: Julia André, Volha V. Zhukouskaya, Anne-Sophie Lambert, Jean-Pierre Salles, Brigitte Mignot, Claire Bardet, Catherine Chaussain, Anya Rothenbuhler and Agnès Linglart
    Citation: Orphanet Journal of Rare Diseases 2022 17:444
    Content type: Research Published on:

  48. Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction sin...

    Authors: Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto and Alessandro P. Burlina
    Citation: Orphanet Journal of Rare Diseases 2022 17:443
    Content type: Position statement Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:44

  49. Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of gluco...

    Authors: A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox and J. Aerts
    Citation: Orphanet Journal of Rare Diseases 2022 17:442
    Content type: Review Published on:

  50. People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pat...

    Authors: Birute Tumiene, Harm Peters, Bela Melegh, Borut Peterlin, Algirdas Utkus, Natalja Fatkulina, György Pfliegler, Holm Graessner, Sanja Hermanns, Maurizio Scarpa, Jean-Yves Blay, Sharon Ashton, Lucy McKay and Gareth Baynam
    Citation: Orphanet Journal of Rare Diseases 2022 17:441
    Content type: Position statement Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172