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  1. We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative compa...

    Authors: Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little…
    Citation: Orphanet Journal of Rare Diseases 2019 14:70
    Content type: Research Published on:

  2. First-choice treatment for Cushing’s disease is transsphenoidal adenomectomy. Since its introduction in the 1970s, many centers have now switched from microscopic to endoscopic surgery. We compared both techni...

    Authors: Leonie H. A. Broersen, Femke M. van Haalen, Nienke R. Biermasz, Daniel J. Lobatto, Marco J. T. Verstegen, Wouter R. van Furth, Olaf M. Dekkers and Alberto M. Pereira
    Citation: Orphanet Journal of Rare Diseases 2019 14:64
    Content type: Research Published on:

  3. Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration....

    Authors: Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti and Laura Bannach Jardim
    Citation: Orphanet Journal of Rare Diseases 2018 13:20
    Content type: Research Published on:

  4. Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and und...

    Authors: Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin and Melanie Calvert
    Citation: Orphanet Journal of Rare Diseases 2018 13:61
    Content type: Review Published on:

  5. Gingival fibromatosis is a rare and heterogeneous group of disorders that develop as slowly progressive, local or diffuse enlargements within marginal and attached gingiva or interdental papilla. In severe cas...

    Authors: Katarzyna Gawron, Katarzyna Łazarz-Bartyzel, Jan Potempa and Maria Chomyszyn-Gajewska
    Citation: Orphanet Journal of Rare Diseases 2016 11:9
    Content type: Review Published on:

  6. In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known a...

    Authors: María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos and Rosaura Leis
    Citation: Orphanet Journal of Rare Diseases 2018 13:103
    Content type: Research Published on:

  7. Children with rare bone diseases (RBDs), whether medically complex or not, raise multiple issues in emergency situations. The healthcare burden of children with RBD in emergency structures remains unknown. The...

    Authors: David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire and François Angoulvant
    Citation: Orphanet Journal of Rare Diseases 2020 15:2
    Content type: Research Published on:

  8. An agreement, signed in 2007 by the 49 French Cystic Fibrosis Centers, included a commitment to participate, within the next 5 years, in a care quality assessment and improvement program (QIP). The objective w...

    Authors: Dominique Pougheon Bertrand, Guy Minguet, Pierre Lombrail and Gilles Rault
    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):12
    Content type: Research Published on:

    This article is part of a Supplement: Volume 13 Supplement 1

  9. Complex I (CI or NADH:ubiquinone oxidoreductase) deficiency is the most frequent cause of mitochondrial respiratory chain defect. Successful attempts to rescue CI function by introducing an exogenous NADH dehy...

    Authors: Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch and Manuel Schiff
    Citation: Orphanet Journal of Rare Diseases 2019 14:236
    Content type: Research Published on:

  10. Pulmonary Arterial Hypertension (PAH) is a chronic rare disease that can lead to serious cardiovascular problems and death. Additional treatments that increase effectiveness, that are safe and with a convenien...

    Authors: Alberto Jiménez, Arantza Ais, Amélie Beaudet and Alicia Gil
    Citation: Orphanet Journal of Rare Diseases 2018 13:220
    Content type: Research Published on:

  11. A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relativ...

    Authors: Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli…
    Citation: Orphanet Journal of Rare Diseases 2017 12:90
    Content type: Research Published on:

  12. In the European Union (EU) and United States (US), specific regulations have been released to provide incentives to develop and sell orphan medicinal products.

    Authors: Viviana Giannuzzi, Rosa Conte, Annalisa Landi, Serena Antonella Ottomano, Donato Bonifazi, Paola Baiardi, Fedele Bonifazi and Adriana Ceci
    Citation: Orphanet Journal of Rare Diseases 2017 12:64
    Content type: Research Published on:

  13. Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline pro...

    Authors: K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. García García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek and K. M. Mayre-Chilton
    Citation: Orphanet Journal of Rare Diseases 2019 14:133
    Content type: Review Published on:

  14. Secondary use of data collected in Electronic Health Records opens perspectives for increasing our knowledge of rare diseases. The clinical data warehouse (named Dr. Warehouse) at the Necker-Enfants Malades Ch...

    Authors: Nicolas Garcelon, Antoine Neuraz, Rémi Salomon, Nadia Bahi-Buisson, Jeanne Amiel, Capucine Picard, Nizar Mahlaoui, Vincent Benoit, Anita Burgun and Bastien Rance
    Citation: Orphanet Journal of Rare Diseases 2018 13:85
    Content type: Research Published on:

  15. Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. Patients with the diffuse disease variant often require near-total surgical removal of...

    Authors: Sana Eljamel, Annabel Griffiths, Jenni Evans, Indraneel Banerjee, Khalid Hussain and Richard Thompson
    Citation: Orphanet Journal of Rare Diseases 2018 13:123
    Content type: Research Published on:

  16. The data from cohorts of childhood-onset granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) remain scarce and heterogeneous. We aimed to analyse the features at presentation, therapeutic...

    Authors: Michele Iudici, Pierre Quartier, Benjamin Terrier, Luc Mouthon, Loïc Guillevin and Xavier Puéchal
    Citation: Orphanet Journal of Rare Diseases 2016 11:141
    Content type: Review Published on:

  17. Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is ofte...

    Authors: Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford and Howard M. Lederman
    Citation: Orphanet Journal of Rare Diseases 2016 11:159
    Content type: Review Published on:

  18. Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick dis...

    Authors: María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik and Chris J Hendriksz
    Citation: Orphanet Journal of Rare Diseases 2019 14:20
    Content type: Review Published on:

  19. Rare disease patients and caregivers face uncommon, serious, debilitating conditions often characterised by poor prognosis and limited treatment options. This study aimed to explore what they consider of value...

    Authors: T. Morel, S. Aymé, D. Cassiman, S. Simoens, M. Morgan and M. Vandebroek
    Citation: Orphanet Journal of Rare Diseases 2016 11:70
    Content type: Research Published on:

  20. Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of ...

    Authors: Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory…
    Citation: Orphanet Journal of Rare Diseases 2018 13:152
    Content type: Research Published on:

  21. This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subuni...

    Authors: Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, Maria Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris Hofstede, George Hoganson, Wuh-Liang Hwu, Philip James…
    Citation: Orphanet Journal of Rare Diseases 2015 10:99
    Content type: Research Published on:

  22. Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, ...

    Authors: Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones…
    Citation: Orphanet Journal of Rare Diseases 2015 10:138
    Content type: Research Published on:

  24. Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and...

    Authors: Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello and Isabella Ceccherini
    Citation: Orphanet Journal of Rare Diseases 2019 14:270
    Content type: Research Published on:

  25. Rare rheumatologic diseases are a heterogeneous group of conditions associated with high morbidity. As a whole group, rare rheumatologic diseases afflict millions of people demanding for effective therapies. T...

    Authors: Thomas Lutz, Anette Lampert, Georg F. Hoffmann and Markus Ries
    Citation: Orphanet Journal of Rare Diseases 2016 11:60
    Content type: Research Published on:

  27. Behçet’s Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patient...

    Authors: Amal Senusi, Noha Seoudi, Lesley Ann Bergmeier and Farida Fortune
    Citation: Orphanet Journal of Rare Diseases 2015 10:117
    Content type: Research Published on:

  28. Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe ...

    Authors: Alexandra Morrison, Esmee Oussoren, Tabea Friedel, Jordi Cruz and Nalan Yilmaz
    Citation: Orphanet Journal of Rare Diseases 2019 14:254
    Content type: Research Published on:

  29. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan....

    Authors: Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2015 10:29
    Content type: Review Published on:

  30. Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was la...

    Authors: Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan and Rani H. Singh
    Citation: Orphanet Journal of Rare Diseases 2017 12:132
    Content type: Research Published on:

  31. Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life ...

    Authors: Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi and Rosagemma Ciliberti
    Citation: Orphanet Journal of Rare Diseases 2019 14:269
    Content type: Research Published on:

  32. Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, i...

    Authors: Mohua Chakraborty Choudhury and Gayatri Saberwal
    Citation: Orphanet Journal of Rare Diseases 2019 14:241
    Content type: Research Published on:

  33. Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist i...

    Authors: Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran and Eileen P. Treacy
    Citation: Orphanet Journal of Rare Diseases 2018 13:164
    Content type: Research Published on:

  34. Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and...

    Authors: Louise F. Porter, Roberto Gallego-Pinazo, Catherine L. Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Marina Colombi, Cecilia Giunta, Richard Bonshek, Forbes D. Manson and Graeme C. Black
    Citation: Orphanet Journal of Rare Diseases 2015 10:145
    Content type: Research Published on:

  35. Since incentives were introduced to promote orphan drugs in Europe, several dozens of drugs have been registered at the European level. However, patient access on a national level remains very heterogeneous ac...

    Authors: Marion Bourdoncle, Blandine Juillard-Condat and Florence Taboulet
    Citation: Orphanet Journal of Rare Diseases 2019 14:47
    Content type: Research Published on:

  36. The aim of our study was to develop and validate the first set of PKU-specific Health-related Quality of Life (HRQoL) questionnaires that: 1) were developed for patients with PKU and their parents, 2) cover th...

    Authors: Antoine Regnault, Alberto Burlina, Amy Cunningham, Esther Bettiol, Flavie Moreau-Stucker, Khadra Benmedjahed and Annet M Bosch
    Citation: Orphanet Journal of Rare Diseases 2015 10:59
    Content type: Research Published on:

  37. Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizur...

    Authors: K. F. Trefz, A. C. Muntau, K. M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder and F. Rutsch
    Citation: Orphanet Journal of Rare Diseases 2019 14:181
    Content type: Research Published on:

  38. Extensive and complex vascular malformations often cause chronic pain and severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great...

    Authors: Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula and Laurence M. Boon
    Citation: Orphanet Journal of Rare Diseases 2018 13:191
    Content type: Research Published on:

  39. Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especia...

    Authors: Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi and Sirous Zeinali
    Citation: Orphanet Journal of Rare Diseases 2020 15:14
    Content type: Research Published on:

  40. Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior. This study attempted to comp...

    Authors: Jingshuang Yu, Tong Yang, Jiewen Dai and Xudong Wang
    Citation: Orphanet Journal of Rare Diseases 2019 14:293
    Content type: Research Published on:

  41. Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and ...

    Authors: Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong and Dmitry Khodyakov
    Citation: Orphanet Journal of Rare Diseases 2019 14:205
    Content type: Research Published on:

  42. Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.

    Authors: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau…
    Citation: Orphanet Journal of Rare Diseases 2018 13:212
    Content type: Research Published on:

  43. The ASTERIX project developed a number of novel methods suited to study small populations. The objective of this exercise was to evaluate the applicability and added value of novel methods to improve drug deve...

    Authors: Marian Mitroiu, Katrien Oude Rengerink, Caridad Pontes, Aranzazu Sancho, Roser Vives, Stella Pesiou, Juan Manuel Fontanet, Ferran Torres, Stavros Nikolakopoulos, Konstantinos Pateras, Gerd Rosenkranz, Martin Posch, Susanne Urach, Robin Ristl, Armin Koch, Spineli Loukia…
    Citation: Orphanet Journal of Rare Diseases 2018 13:200
    Content type: Research Published on:

  44. For rare serious and life-threatening disorders, there is a tremendous challenge of transforming scientific discoveries into new drug treatments. This challenge has been recognized by all stakeholders who endo...

    Authors: Emil D Kakkis, Mary O’Donovan, Gerald Cox, Mark Hayes, Federico Goodsaid, PK Tandon, Pat Furlong, Susan Boynton, Mladen Bozic, May Orfali and Mark Thornton
    Citation: Orphanet Journal of Rare Diseases 2015 10:16
    Content type: Review Published on:

  45. The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (...

    Authors: Yan Huang, Corey Powers, Victoria Moore, Caitlin Schafer, Mindong Ren, Colin K. L. Phoon, Jeanne F. James, Alexander V. Glukhov, Sabzali Javadov, Frédéric M. Vaz, John L. Jefferies, Arnold W. Strauss and Zaza Khuchua
    Citation: Orphanet Journal of Rare Diseases 2017 12:49
    Content type: Research Published on:

  46. Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosom...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…
    Citation: Orphanet Journal of Rare Diseases 2019 14:137
    Content type: Research Published on:

  47. Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental di...

    Authors: Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho and Dau-Ming Niu
    Citation: Orphanet Journal of Rare Diseases 2019 14:73
    Content type: Research Published on:

  49. GD1-DS3 is an integrated assessment of type 1 Gaucher disease (GD1) burden based on bone, hematologic and visceral domains. We investigated this disease severity scoring system (DS3) methodology for initial as...

    Authors: Neal J. Weinreb, David N. Finegold, Eleanor Feingold, Zhen Zeng, Barry E. Rosenbloom, Suma P. Shankar and Dominick Amato
    Citation: Orphanet Journal of Rare Diseases 2015 10:64
    Content type: Research Published on:

  50. Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and spe...

    Authors: Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez and Susanna Balcells
    Citation: Orphanet Journal of Rare Diseases 2020 15:44
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172