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A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Sinclair, Graham B; van Karnebeek, Clara D M; Ester, Manuel; Boyd, Frances; Nelson, Tanya; Stockler-Ipsiroglu, Sylvia; Vallance, Hilary.
Affiliation
  • Sinclair GB; Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada; Treatable Intellectual Disability Endeavour, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada; University of British Columbia, Vancouver, BC, Canada. Electronic address: gsinclair@cw.bc.ca.
  • van Karnebeek CDM; Department of Pediatrics, Vancouver, BC, Canada; Treatable Intellectual Disability Endeavour, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada; University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics/Child and Family Res
  • Ester M; Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada.
  • Boyd F; Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada.
  • Nelson T; Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada; University of British Columbia, Vancouver, BC, Canada.
  • Stockler-Ipsiroglu S; Department of Pediatrics, Vancouver, BC, Canada; Treatable Intellectual Disability Endeavour, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada; University of British Columbia, Vancouver, BC, Canada.
  • Vallance H; Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada; Treatable Intellectual Disability Endeavour, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada; University of British Columbia, Vancouver, BC, Canada.
Mol Genet Metab ; 118(3): 173-177, 2016 07.
Article in En | MEDLINE | ID: mdl-27233226
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Full text: 1 Database: MEDLINE Main subject: Neonatal Screening / Guanidinoacetate N-Methyltransferase / Language Development Disorders / Movement Disorders Type of study: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Neonatal Screening / Guanidinoacetate N-Methyltransferase / Language Development Disorders / Movement Disorders Type of study: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Type: Article