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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Huemer, Martina; Kozich, Viktor; Rinaldo, Piero; Baumgartner, Matthias R; Merinero, Begoña; Pasquini, Elisabetta; Ribes, Antonia; Blom, Henk J.
Afiliação
  • Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. martina.huemer@lkhb.at.
  • Kozich V; Radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland. martina.huemer@lkhb.at.
  • Rinaldo P; Department of Pediatrics, Landeskrankenhaus Bregenz, Carl-Pedenz-Str. 2, 6900, Bregenz, Austria. martina.huemer@lkhb.at.
  • Baumgartner MR; Institute of Inherited Metabolic Disorders, Charles University in Prague-1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Merinero B; Department Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Pasquini E; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • Ribes A; Radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland.
  • Blom HJ; Centro de Diagnóstico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma de Madrid, IDIPAZ, CIBER de Enfermedades Raras, Madrid, Spain.
J Inherit Metab Dis ; 38(6): 1007-19, 2015 Nov.
Article em En | MEDLINE | ID: mdl-25762406
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Metilenotetra-Hidrofolato Redutase (NADPH2) / Homocistinúria Tipo de estudo: Diagnostic_studies / Guideline / Screening_studies / Systematic_reviews Limite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Metilenotetra-Hidrofolato Redutase (NADPH2) / Homocistinúria Tipo de estudo: Diagnostic_studies / Guideline / Screening_studies / Systematic_reviews Limite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Suíça