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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of ...

    Authors: Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong and Matthew N. Bainbridge
    Citation: Orphanet Journal of Rare Diseases 2022 17:440
  28. Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) may cause pain, impaired ambulation and decreased quality of life (QoL). International guidelines advocate management of FD/MAS in a tertiary multidisciplina...

    Authors: Maartje E. Meier, Marlous Hagelstein-Rotman, Annenienke C. van de Ven, Ingrid C. M. Van der Geest, Olav Donker, Sarina E. C. Pichardo, Petra C. E. Hissink Muller, Stijn W. van der Meeren, Desirée M. J. Dorleijn, Elizabeth M. Winter, Michiel A. J. van de Sande and Natasha M. Appelman-Dijkstra
    Citation: Orphanet Journal of Rare Diseases 2022 17:439
  29. Authors: Rachel Box, Catina Bernardis, Alexander Pleshkov, Nicky Jessop, Catherine Miller, Jennifer Skye, Virginia O’Brien, Matthew Veerkamp, Anna Carolina Ferreira da Rocha and Roger Cornwall
    Citation: Orphanet Journal of Rare Diseases 2022 17:438

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:406

  30. Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). We report 2-year cum...

    Authors: George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon and Monica Kumar
    Citation: Orphanet Journal of Rare Diseases 2022 17:437
  31. Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable ...

    Authors: Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen and Marco Roos
    Citation: Orphanet Journal of Rare Diseases 2022 17:436
  32. The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis. The aim of the study was to assess the...

    Authors: Julia Feurstein, Martina Behanova, Judith Haschka, Katharina Roetzer, Gökhan Uyanik, Benjamin Hadzimuratovic, Martina Witsch-Baumgartner, Georg Schett, Jochen Zwerina and Roland Kocijan
    Citation: Orphanet Journal of Rare Diseases 2022 17:435
  33. Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one...

    Authors: Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari and Yann Nadjar
    Citation: Orphanet Journal of Rare Diseases 2022 17:434
  34. Hepatitis E virus (HEV) infection is a frequent cause of acute viral hepatitis. Immunocompromised patients are at increased risk for viral infection and chronic courses of hepatitis. Whether patients with auto...

    Authors: Markus Zeisbrich, Sarah Wendel, Stephanie Finzel, Reinhard E. Voll and Nils Venhoff
    Citation: Orphanet Journal of Rare Diseases 2022 17:433
  35. Subcutaneous panniculitis T-cell lymphoma (SPTCL) is a rare, cytotoxic T-cell lymphoma with which some patients have accompanying hemophagocytic syndrome (HPS). There is currently no standard treatment regimen...

    Authors: Yanlong Duan, Huixia Gao, Chunju Zhou, Ling Jin, Jing Yang, Shuang Huang, Meng Zhang, Yonghong Zhang and Tianyou Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:432
  36. Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome se...

    Authors: Hongyan Jia, Qian Ma, Yi Liang, Dan Wang, Qinglin Chang, Bo Zhao, Zongrui Zhang, Jing Liang, Jing Song, Yidi Wang, Ranran Zhang, Zhanhan Tu and Yonghong Jiao
    Citation: Orphanet Journal of Rare Diseases 2022 17:431
  37. Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic diseases. However, few data are available for rare and undiagnosed diseases ...

    Authors: Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot and Rima Nabbout
    Citation: Orphanet Journal of Rare Diseases 2022 17:430
  38. Although some jurisdictions have implemented particular adjustments to accommodate often-expensive orphan drugs in their healthcare systems, availability of these drugs remains complex. This study investigates...

    Authors: Khadidja Abdallah, Kathleen Claes, Isabelle Huys, Lennert Follon, Charlotte Calis and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2022 17:429
  39. Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. Thr...

    Authors: Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego and Jordi Díaz-Manera
    Citation: Orphanet Journal of Rare Diseases 2022 17:426
  40. Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income...

    Authors: Roberta Shcolnik Szor, Fabio Fernandes, Angelina Maria Martins Lino, Leonardo Oliveira Mendonça, Fernanda Salles Seguro, Valkercyo Araujo Feitosa, Jussara Bianchi Castelli, Lecticia Barbosa Jorge, Lucas Bassolli de Oliveira Alves, Precil Diego Miranda de Menezes Neves, Evandro de Oliveira Souza, Livia Barreira Cavalcante, Denise Malheiros, Jorge Kalil, Gracia Aparecida Martinez and Vanderson Rocha
    Citation: Orphanet Journal of Rare Diseases 2022 17:425
  41. Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransfer...

    Authors: Zahra Beyzaei, Sara Nabavizadeh, Sara Karimzadeh and Bita Geramizadeh
    Citation: Orphanet Journal of Rare Diseases 2022 17:424
  42. Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current glycine reduction therapy uses high doses of sodium benzoate. The ketogenic diet (KD) may...

    Authors: Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl and Johan L. K. Van Hove
    Citation: Orphanet Journal of Rare Diseases 2022 17:423
  43. Chronic active Epstein-Barr virus infection (CAEBV) is a rare but life-threatening progressive disease. Human leukocyte antigen (HLA)-haploidentical hematopoietic stem cell transplantation (haplo-HSCT) is the ...

    Authors: Rongmu Luo, Xiaomei Zhang, Ya Wang, Qihang Man, Wenjing Gu, Zhengqin Tian and Jingbo Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:422
  44. ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Aut...

    Authors: Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch and Carlos R. Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:421