Your browser doesn't support javascript.
loading
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Diez-Fernandez, Carmen; Rüfenacht, Véronique; Santra, Saikat; Lund, Allan M; Santer, René; Lindner, Martin; Tangeraas, Trine; Unsinn, Caroline; de Lonlay, Pascale; Burlina, Alberto; van Karnebeek, Clara D M; Häberle, Johannes.
Afiliação
  • Diez-Fernandez C; Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.
  • Rüfenacht V; Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.
  • Santra S; Birmingham Children's Hospital, Birmingham, England.
  • Lund AM; Center for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
  • Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
  • Lindner M; Universitäts Kinderklinik Frankfurt, Frankfurt, Germany.
  • Tangeraas T; Department of Paediatric Medicine, Oslo University Hospital, Oslo, Norway.
  • Unsinn C; Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.
  • de Lonlay P; Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, APHP, University Paris Descartes, Paris, France.
  • Burlina A; Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital Padova, Padova, Italy.
  • van Karnebeek CD; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital and Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Häberle J; Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.
Genet Med ; 18(10): 991-1000, 2016 10.
Article em En | MEDLINE | ID: mdl-26913920
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose / Anidrases Carbônicas / Hiperamonemia / Fígado Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Suíça País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose / Anidrases Carbônicas / Hiperamonemia / Fígado Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Suíça País de publicação: Estados Unidos