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Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Wenger, Olivia; Brown, Miraides; Smith, Brandon; Chowdhury, Devyani; Crosby, Andrew H; Baple, Emma L; Yoder, Mark; Laxen, William; Tortorelli, Silvia; Strauss, Kevin A.
Affiliation
  • Wenger O; New Leaf Clinic, PO Box 336, 16014 East Chestnut Street, Mount Eaton, OH, 44691, USA; Department of Pediatrics, Akron Children's Hospital, 214 West Bowery Street, Akron, OH 44308, USA. Electronic address: owenger@newleafclinic.org.
  • Brown M; Rebecca Considine Research Institute, Akron Children's Hospital, Akron, OH, USA.
  • Smith B; Department of Pediatrics, Akron Children's Hospital, 214 West Bowery Street, Akron, OH 44308, USA.
  • Chowdhury D; Cardiology Care for Children, Lancaster, PA, USA.
  • Crosby AH; Institute of Biomedical and Clinical Science, Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.
  • Baple EL; Institute of Biomedical and Clinical Science, Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.
  • Yoder M; Northeast Ohio Medical University, Rootstown, OH, USA.
  • Laxen W; Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, USA.
  • Tortorelli S; Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, USA.
  • Strauss KA; Clinic for Special Children, Strasburg, PA, USA; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA; Departments of Pediatrics and Molecular, Cell & Cancer Biology, University of Massachusetts School of Medicine, Worcester, MA, USA.
Mol Genet Metab ; 131(3): 316-324, 2020 11.
Article in En | MEDLINE | ID: mdl-33127324
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carbon-Carbon Ligases / Propionic Acidemia / Neurodevelopmental Disorders / Heart Type of study: Observational_studies Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2020 Document type: Article Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carbon-Carbon Ligases / Propionic Acidemia / Neurodevelopmental Disorders / Heart Type of study: Observational_studies Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2020 Document type: Article Country of publication: Estados Unidos