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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle, Johannes; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Karall, Daniela; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Pintos-Morell, Guillem; Santer, René; Skouma, Anastasia; Servais, Aude; Tal, Galit; Rubio, Vicente; Huemer, Martina; Dionisi-Vici, Carlo.
Afiliação
  • Häberle J; University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.
  • Burlina A; Division of Inborn Metabolic Disease, Department of Pediatrics, University Hospital Padua, Padova, Italy.
  • Chakrapani A; Department of Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Dixon M; Dietetics, Great Ormond Street Hospital for Children, NHS Trust, London, UK.
  • Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • Lindner M; University Children's Hospital, Frankfurt am Main, Germany.
  • Mandel H; Institute of Human Genetics and metabolic disorders, Western Galilee Medical Center, Nahariya, Israel.
  • Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Pintos-Morell G; Centre for Rare Diseases, University Hospital Vall d'Hebron, Barcelona, Spain.
  • Santer R; CIBERER_GCV08, Research Institute IGTP, Barcelona, Spain.
  • Skouma A; Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Servais A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Tal G; Institute of Child Health, Agia Sofia Children's Hospital, Athens, Greece.
  • Rubio V; Service de Néphrologie et maladies métaboliques adulte Hôpital Necker 149, Paris, France.
  • Huemer M; The Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa, Israel.
  • Dionisi-Vici C; Instituto de Biomedicina de Valencia (IBV-CSIC), Centro de Investigación Biomédica en Red para Enfermedades Raras (CIBERER), Valencia, Spain.
J Inherit Metab Dis ; 42(6): 1192-1230, 2019 11.
Article em En | MEDLINE | ID: mdl-30982989
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Guias de Prática Clínica como Assunto / Distúrbios Congênitos do Ciclo da Ureia Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Guias de Prática Clínica como Assunto / Distúrbios Congênitos do Ciclo da Ureia Idioma: En Ano de publicação: 2019 Tipo de documento: Article