Your browser doesn't support javascript.
loading
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes, Marisa I; Smith, Desirée Ec; Pop, Ana; Lennertz, Pascal; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; van Dooren, Silvy Jm; Anikster, Yair; Baric, Ivo; Boelen, Caroline; Campistol, Jaime; de Boer, Lonneke; Kariminejad, Ariana; Kayserili, Hulya; Roubertie, Agathe; Verbruggen, Krijn T; Vianey-Saban, Christine; Williams, Monique; Salomons, Gajja S.
Afiliación
  • Mendes MI; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Smith DE; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Pop A; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Lennertz P; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Fernandez Ojeda MR; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Kanhai WA; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • van Dooren SJ; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Anikster Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Israel.
  • Baric I; Department of Pediatrics, University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia.
  • Boelen C; Department of Pediatrics, Admiraal De Ruyter Ziekenhuis, Goes, Zeeland, The Netherlands.
  • Campistol J; Neurology Department, CIBERER ISCIII, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.
  • de Boer L; Department of pediatrics, metabolic diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
  • Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.
  • Roubertie A; Département de Neuropédiatrie, Hopital Gui de Chauliac, Montpellier, Languedoc-Roussillon, France.
  • Verbruggen KT; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.
  • Vianey-Saban C; Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Williams M; Centre de Biologie et de Pathologie Est CHU de Lyon, Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Lyon, France.
  • Salomons GS; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Hum Mutat ; 38(5): 524-531, 2017 05.
Article en En | MEDLINE | ID: mdl-28101991
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Canavan / Amidohidrolasas Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Canavan / Amidohidrolasas Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos