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Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps, Kimberly A; Sremba, Leighann; Larson, Austin A; Van Hove, Johan L K; Nguyen, Hoanh; Wright, Erica L; Mirsky, David M; Watkins, David; Rosenblatt, David S; Ketteridge, David; Berry, Susan A; McCandless, Shawn E; Baker, Peter R.
  • Kripps KA; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Sremba L; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
  • Larson AA; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Van Hove JLK; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Nguyen H; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Wright EL; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Mirsky DM; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Watkins D; Department of Radiology, University of Colorado, and Children's Hospital Colorado, Aurora, Colorado, USA.
  • Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Ketteridge D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Berry SA; Department of Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • McCandless SE; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.
  • Baker PR; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
J Inherit Metab Dis ; 45(2): 157-168, 2022 03.
Article en En | MEDLINE | ID: mdl-34625984
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Vitamina B 12 / Metionina Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adult / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Vitamina B 12 / Metionina Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adult / Humans Idioma: En Año: 2022 Tipo del documento: Article