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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Guenzel, Adam J; Hall, Patricia L; Scott, Anna I; Lam, Christina; Chang, Irene J; Thies, Jenny; Ferreira, Carlos R; Pichurin, Pavel; Laxen, William; Raymond, Kimiyo; Gavrilov, Dimitar K; Oglesbee, Devin; Rinaldo, Piero; Matern, Dietrich; Tortorelli, Silvia.
Afiliación
  • Guenzel AJ; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
  • Hall PL; Department of Human Genetics Emory University Atlanta Georgia USA.
  • Scott AI; Biochemical Genetics Laboratory Seattle Children's Hospital Seattle Washington USA.
  • Lam C; Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA.
  • Chang IJ; Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA.
  • Thies J; Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA.
  • Ferreira CR; National Human Genome Research Institute (NHGRI) Bethesda Maryland USA.
  • Pichurin P; Division of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
  • Laxen W; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
  • Raymond K; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
  • Gavrilov DK; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
  • Oglesbee D; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
  • Rinaldo P; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
  • Matern D; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
  • Tortorelli S; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
JIMD Rep ; 60(1): 67-74, 2021 Jul.
Article en En | MEDLINE | ID: mdl-34258142
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: JIMD Rep Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: JIMD Rep Año: 2021 Tipo del documento: Article