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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Izquierdo-Serra, Mercè; Martínez-Monseny, Antonio F; López, Laura; Carrillo-García, Julia; Edo, Albert; Ortigoza-Escobar, Juan Darío; García, Óscar; Cancho-Candela, Ramón; Carrasco-Marina, M Llanos; Gutiérrez-Solana, Luis G; Cuadras, Daniel; Muchart, Jordi; Montero, Raquel; Artuch, Rafael; Pérez-Cerdá, Celia; Pérez, Belén; Pérez-Dueñas, Belén; Macaya, Alfons; Fernández-Fernández, José M; Serrano, Mercedes.
Afiliação
  • Izquierdo-Serra M; Laboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain. merce.izquierdo@upf.edu.
  • Martínez-Monseny AF; Genetic Medicine and Rare Diseases Pediatric Institute, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. afmartinez@hsjdbcn.org.
  • López L; Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, 28009 Madrid, Spain. laural.marin@hotmail.com.
  • Carrillo-García J; Laboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain. julia.carrillo@upf.edu.
  • Edo A; Laboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain. albert.edo01@estudiant.upf.edu.
  • Ortigoza-Escobar JD; Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. jortigoza@sjdhospitalbarcelona.org.
  • García Ó; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain. jortigoza@sjdhospitalbarcelona.org.
  • Cancho-Candela R; Pediatric Department, Hospital Virgen de la Salud, 45004 Toledo, Spain. oscargarcam@hotmail.com.
  • Carrasco-Marina ML; Pediatric Neurology Unit, Pediatrics Department, Hospital Universitario Rio Hortega, 47012 Valladolid, Spain. rcanchoc@saludcastillayleon.es.
  • Gutiérrez-Solana LG; Neuropediatric Department, Pediatric Service, Hospital Universitario Severo Ochoa, Leganés, 28009 Madrid, Spain. maria.llanos@salud.madrid.org.
  • Cuadras D; Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, 28009 Madrid, Spain. lgutierrez.hnjs@salud.madrid.org.
  • Muchart J; Statistics Department, Fundació Sant Joan de Déu, 08002 Barcelona, Spain. dcuadras@fsjd.org.
  • Montero R; Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. jmuchart@hsjdbcn.org.
  • Artuch R; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain. jmuchart@hsjdbcn.org.
  • Pérez-Cerdá C; Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. rmontero@hsjdbcn.org.
  • Pérez B; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain. rmontero@hsjdbcn.org.
  • Pérez-Dueñas B; Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. rartuch@hsjdbcn.org.
  • Macaya A; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain. rartuch@hsjdbcn.org.
  • Fernández-Fernández JM; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ, 28009 Madrid, Spain. cpcerda@cbm.csic.es.
  • Serrano M; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ, 28009 Madrid, Spain. bperez@cbm.csic.es.
Int J Mol Sci ; 19(2)2018 Feb 22.
Article em En | MEDLINE | ID: mdl-29470411
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Fosfotransferases (Fosfomutases) / Acidente Vascular Cerebral / Canalopatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Fosfotransferases (Fosfomutases) / Acidente Vascular Cerebral / Canalopatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article