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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kozich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo.
Afiliação
  • Huemer M; Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zurich, Switzerland.
  • Diodato D; radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zurich, Switzerland.
  • Schwahn B; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
  • Schiff M; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
  • Bandeira A; Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, M13 9WL, UK.
  • Benoist JF; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
  • Burlina A; Inserm U1141, Robert Debré Hospital, Paris, France.
  • Cerone R; Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.
  • Couce ML; Metabolic Unit, Centro Hospitalar do Porto, Porto, Portugal.
  • Garcia-Cazorla A; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
  • la Marca G; Inserm U1141, Robert Debré Hospital, Paris, France.
  • Pasquini E; Biochimie, faculté de pharmacie, Université Paris Sud, Paris, France.
  • Vilarinho L; Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital Padova, Padova, Italy.
  • Weisfeld-Adams JD; University Dept of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
  • Kozich V; Congenital Metabolic Diseases Unit, Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBER, Compostela, Spain.
  • Blom H; Department of Neurology, Neurometabolism Unit, and CIBERER (ISCIII), Hospital Sant Joan de Deu, Barcelona, Spain.
  • Baumgartner MR; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Firence, Italy.
  • Dionisi-Vici C; Metabolic and Newborn Screening Clinical Unit, Department of Neurosciences, A. Meyer Children's University Hospital, Florence, Italy.
J Inherit Metab Dis ; 40(1): 21-48, 2017 01.
Article em En | MEDLINE | ID: mdl-27905001
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Vitamina B 12 / Metilenotetra-Hidrofolato Redutase (NADPH2) / Proteínas Proto-Oncogênicas c-cbl / Metilação Tipo de estudo: Diagnostic_studies / Guideline / Qualitative_research Limite: Animals / Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 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: Vitamina B 12 / Metilenotetra-Hidrofolato Redutase (NADPH2) / Proteínas Proto-Oncogênicas c-cbl / Metilação Tipo de estudo: Diagnostic_studies / Guideline / Qualitative_research Limite: Animals / Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça País de publicação: Estados Unidos