Your browser doesn't support javascript.
loading
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Ferreira, Carlos R; Whitehead, Matthew T; Leon, Eyby.
Afiliación
  • Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Whitehead MT; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
  • Leon E; The George Washington University School of Medicine, Washington, District of Columbia.
Am J Med Genet A ; 173(6): 1502-1513, 2017 Jun.
Article en En | MEDLINE | ID: mdl-28402605
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Ganglios Basales / Enfermedades de los Ganglios Basales / Encéfalo Tipo de estudio: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Ganglios Basales / Enfermedades de los Ganglios Basales / Encéfalo Tipo de estudio: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article