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Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
Casey, Jillian P; Slattery, Suzanne; Cotter, Melanie; Monavari, A A; Knerr, Ina; Hughes, Joanne; Treacy, Eileen P; Devaney, Deirdre; McDermott, Michael; Laffan, Eoghan; Wong, Derek; Lynch, Sally Ann; Bourke, Billy; Crushell, Ellen.
  • Casey JP; Genetics Department, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Slattery S; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.
  • Cotter M; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Monavari AA; Department of Haematology, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Knerr I; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Treacy EP; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Devaney D; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • McDermott M; Histopathology Department, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Laffan E; Pathology Department, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
  • Wong D; Department of Radiology, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Lynch SA; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
  • Bourke B; Genetics Department, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Crushell E; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.
J Inherit Metab Dis ; 38(6): 1085-92, 2015 Nov.
Article en En | MEDLINE | ID: mdl-25917789
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / ARN de Transferencia Aminoácido-Específico / Fallo Hepático / Insuficiencia de Crecimiento / Anemia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País como asunto: Europa Idioma: En Año: 2015 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / ARN de Transferencia Aminoácido-Específico / Fallo Hepático / Insuficiencia de Crecimiento / Anemia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País como asunto: Europa Idioma: En Año: 2015 Tipo del documento: Article