Le xeroderma pigmentosum - Orphanet
Le xeroderma pigmentosum Cette fiche est destinée à vous informer sur le xero-La maladie Le diagnostic Les aspects génétiques Le traitement, la prise en charge, la prévention Vivre avec En savoir plus Le xeroderma pigmentosum Encyclopédie Orphanet Grand Public Maladies Rares Info Services 01 56 53 81 36
REVIEW Open Access Xeroderma pigmentosum
Xeroderma pigmentosum (XP); Orpha 910 Definition Xeroderma pigmentosum (literally dry pigmented skin), is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly ele-vated incidence of skin cancers About 60 of affected individuals show an exaggerated and prolonged sunburn response
Xeroderma pigmentosum-Cockayne syndrome complex
Xeroderma pigmentosum-Cockayne syndrome complex Valerie Natale* and Hayley Raquer Abstract Xeroderma pigmentosum-Cockayne syndrome complex is a v ery rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651) Published information on XP-CS is mostly scattered throughout the literature
Xeroderma pigmentosum 0317 - Integrated Genetics
Xeroderma pigmentosum is an autosomal recessive disease caused by mutations in at least eight different genes, including XPA , XPC , and ERCC5 2,4-6 , An individual who has one mutation in any of these genes is a carrier and is not
Xeroderma Pigmentosum: An Insight into DNA Repair Processes
1 Lehmann AR, McGibbon D, Stefanini M: Xeroderma pigmentosum Orphanet J Rare Dis 6:70-45, 2011 2 DiGiovanna JJ, Kraemer KH: Shining a light on xeroderma pigmentosum J Invest Dermatol 132:785 –796, 2012 3 Bradford PT, Goldstein AM, Tamura D, et al: Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow -up
Recomendaciones para la anestesia de pacientes con - Orphanet
Xeroderma pigmentosum Nombre de la enfermedad: Xeroderma pigmentosum (XP) CIE 10: Q82 1 Sinónimos: Enfermedad de Kaposi, ictiosis; los individuos que sufren esta enferme-dad son llamados a veces niños de la noche o gente de la luna Resumen de la enfermedad: Xeroderma Pigmentosa (XP) es una enfermedad rara
Public summary of opinion on orphan designation Pro-Pro-Thr
Xeroderma pigmentosum is an inherited skin disorder in which patients lack the ability to repair DNA damage caused by ultraviolet light • Orphanet, a database
Genetic therapy of Xeroderma Pigmentosum: analysis of
Xeroderma Pigmentosum: analysis of strategies and translation, Expert Opinion on Orphan Drugs, DOI: 10 1080/21678707 2017 1256770 Orphanet, a comprehensive portal for rare diseases (www
RARE DISEASES IN NUMBERS - European Commission
Xeroderma pigmentosum Agammaglobulinemia X-linked Cowden syndrome Werner syndrome Glutaryl-CoA dehydrogenase deficiency Homocystinuria due to cystathionine beta-synthase deficiency Mucopolysaccharidosis type 4 Lesch-Nyhan syndrome Pfeiffer syndrome Severe combined immunodeficiency T- B-Anemia congenital hypoplastic, Blackfan-Diamond type
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