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Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.
Ruiz-Lopez, Marta; Moreno Estébanez, Ana; Tijero, Beatriz; Fernandez, Tamara; Rebollo-Perez, Alba; Gabilondo, Iñigo; Lopez-Osle, Nuria; Ceberio-Hualde, Leticia; Zarranz, Juan Jose; Gomez-Esteban, Juan Carlos.
Afiliación
  • Ruiz-Lopez M; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain. martaruiznrl@gmail.com.
  • Moreno Estébanez A; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Tijero B; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Fernandez T; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Rebollo-Perez A; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Gabilondo I; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Lopez-Osle N; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Ceberio-Hualde L; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Zarranz JJ; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
  • Gomez-Esteban JC; From the Neurology Department (M.R.-L., A.M.E., B.T., T.F., A.R.-P., I.G., J.J.Z., J.C.G.-E.), and Internal Medicine Department (N.L.-O., L.C.-H.), Cruces University Hospital, Barakaldo, Spain.
Neurology ; 99(6): 251-255, 2022 08 09.
Article en En | MEDLINE | ID: mdl-35940888
ABSTRACT
Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the ATP7B gene, which are inherited in an autosomal recessive pattern. Despite all the advances made on pathogenesis, cellular biology, and genetics, to date, WD remains a diagnostic and therapeutic challenge. With this series of cases, we aim to illustrate the main challenges that clinicians may encounter when dealing with patients with WD the difficulties with clinical diagnosis, the therapeutic management of WD and the indication for advanced therapies, management during pregnancy, and genotype-phenotype correlations.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Degeneración Hepatolenticular Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Degeneración Hepatolenticular Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article