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Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Stiles, Ashlee R; Ferdinandusse, Sacha; Besse, Arnaud; Appadurai, Vivek; Leydiker, Karen B; Cambray-Forker, E J; Bonnen, Penelope E; Abdenur, Jose E.
Afiliación
  • Stiles AR; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA.
  • Ferdinandusse S; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
  • Besse A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Appadurai V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Leydiker KB; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA.
  • Cambray-Forker EJ; Division of Diagnostic Radiology, CHOC Children's, Orange, CA, USA.
  • Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Abdenur JE; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Orange, CA, USA. Electronic address: jabdenur@choc.org.
Mol Genet Metab ; 115(4): 161-7, 2015 Aug.
Article en En | MEDLINE | ID: mdl-26026795
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Anomalías Múltiples / Enfermedad de Leigh / Tamizaje Neonatal / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Anomalías Múltiples / Enfermedad de Leigh / Tamizaje Neonatal / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2015 Tipo del documento: Article