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Revista Habanera de Ciencias Médicas, ISSN 1729-519X, 09/2011, Volume 10, Issue 3, pp. 281 - 286
La enfermedad de Wilson es un trastorno hereditario que se transmite con un patrón de herencia autosómico recesivo. Se caracteriza por la acumulación de cobre... 
mutation N41S | atp7b gene | Wilson disease | Enfermedad de Wilson | mutación N41S | SSCP | gen ATP7B
Journal Article
Revista Espanola de Enfermedades Digestivas, ISSN 1130-0108, 08/2008, Volume 100, Issue 8, pp. 456 - 461
Objetivo: analizar las características clínicas, el tratamiento y evolución de los pacientes diagnosticados de enfermedad de Wilson (EW) en la región de... 
Evolución | Clinical presentation | Presentación clínica | Long-term outcome | Enfermedad de Wilson | Copper | Cobre | Wilson's disease
Journal Article
Neurología (English Edition), ISSN 2173-5808, 05/2019, Volume 34, Issue 4, pp. 248 - 258
Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve... 
Ataxia-telangiectasia | Wilson disease | Recessive ataxia | Ataxia de Friedreich | Ataxia telangiectasia | Friedreich ataxia | Ataxias recesivas | Enfermedad de Wilson | Enfermedad de Niemann-Pick-tipo C | Niemann-Pick disease type C | Refsum disease | Enfermedad de Refsum
Journal Article
Medisur, 08/2018, Volume 16, Issue 4, pp. 579 - 587
Several diseases which constitute a health problem for humans worldwide result from failure of copper cellular homeostasis. The mechanism of copper... 
enfermedad de wilson | errores innatos del metabolismo | mutación | metabolismo | Cobre | síndrome de menkes
Journal Article
Medisur, 08/2018, Volume 16, Issue 4, pp. 579 - 587
Several diseases which constitute a health problem for humans worldwide result from failure of copper cellular homeostasis. The mechanism of copper... 
enfermedad de wilson | errores innatos del metabolismo | mutación | metabolismo | Cobre | síndrome de menkes
Journal Article
Journal Article
Revista de Gastroenterología de México (English Edition), ISSN 2255-534X, 04/2019, Volume 84, Issue 2, pp. 143 - 148
Wilson's disease is characterized by the accumulation of copper in different organs, mainly affecting the liver, brain, and cornea, and is caused by mutations... 
Polimorfismo p.L456 V | Enfermedad de Wilson | SSCP | Single-strand conformation polymorphism | Wilson's disease | p.L456V polymorphism
Journal Article
Revista Espanola de Enfermedades Digestivas, ISSN 1130-0108, 11/2009, Volume 101, Issue 11, pp. 806 - 809
Introduction and objective: acquired chronic hepatocerebral degeneration, acquired hepatolenticular degeneration or pseudo-Wilson is an infrequent disorder... 
Síndrome hepatocerebral | Enfermedad de Wilson | Acquired chronic hepatocerebral degeneration | Degeneración hepatolenticular crónica adquirida | Acquired hepatolenticular degeneration | Wilson's disease | Hepatic encephalopathy | Encefalopatía hepática
Journal Article
Revista Española de Cardiología (English Edition), ISSN 1885-5857, 2009, Volume 62, Issue 8, pp. 875 - 885
The Framingham equations overestimate the risk of coronary disease in populations with a low disease incidence. It is more appropriate to take the local... 
Prevención primaria | Coronary disease risk | Enfermedad coronaria | Primary prevention | Ecuaciones de riesgo cardiovascular | Riesgo de enfermedad coronaria | Cardiovascular risk equations | Coronary disease
Journal Article
Revista del Laboratorio Clínico, ISSN 1888-4008, 2010, Volume 4, Issue 2, pp. 102 - 111
Resumen La enfermedad de Wilson es un trastorno del metabolismo del cobre que se hereda de forma autosómica recesiva. Está causada por mutaciones en el gen... 
Other | ATP7B | Caeruloplasmin | Enfermedad de Wilson | Copper | Cobre | Ceruloplasmina | Wilson's disease
Journal Article
Gastroenterología y Hepatología, ISSN 0210-5705, 2010, Volume 34, Issue 6, pp. 428 - 433
Resumen La enfermedad de Wilson es una alteración que presenta una herencia autosómica recesiva caracterizada por la acumulación tóxica de cobre en el hígado y... 
Gastroenterology and Hepatology | Secuenciación | Diagnóstico prenatal | Molecular diagnosis | Hepatolenticular degeneration | Asesoramiento genético | Diagnóstico molecular | Degeneración hepatolenticular | Prenatal diagnosis | Enfermedad de Wilson | Mutation | Mutación | Wilson's disease | Genetic counselling | Sequencing
Journal Article
Journal Article
1995, ISBN 0471950785, xvi, 651
Book
Neurología, ISSN 0213-4853, 2016, Volume 34, Issue 4, pp. 248 - 258
Resumen Introducción Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo y/o de sus conexiones; en... 
Neurology | Ataxia-telangiectasia | Wilson disease | Recessive ataxia | Ataxia de Friedreich | Ataxia telangiectasia | Ataxias recesivas | Enfermedad de Wilson | Enfermedad de Niemann-Pick-tipo C | Friedreich ataxia | Niemann-Pick disease type C | Refsum disease | Enfermedad de Refsum
Journal Article
2006, 6th ed., ISBN 9780721605371, xiv, 1313
Written and edited by the leading authorities in the field, the revised 6th edition of this authoritative reference provides the most up to date and complete... 
Fetal Diseases | Communicable Diseases | Infant, Newborn | Infant, Newborn, Diseases | Neonatal infections | Fetus | Communicable diseases in newborn infants | Communicable diseases in pregnancy
Book
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