Your browser doesn't support javascript.
loading
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Larson, Austin A; Balasubramaniam, Shanti; Christodoulou, John; Burrage, Lindsay C; Marom, Ronit; Graham, Brett H; Diaz, George A; Glamuzina, Emma; Hauser, Natalie; Heese, Bryce; Horvath, Gabriella; Mattman, Andre; van Karnebeek, Clara; Lane Rutledge, S; Williamson, Amy; Estrella, Lissette; Van Hove, Johan K L; Weisfeld-Adams, James D.
Afiliación
  • Larson AA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA. Electronic address: austin.larson@ucdenver.edu.
  • Balasubramaniam S; Princess Margaret Hospital for Children, Perth, Australia; Children's Hospital at Westmead, Sydney, Australia.
  • Christodoulou J; Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.
  • Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.
  • Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.
  • Diaz GA; Program for Inherited Metabolic Diseases, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Glamuzina E; Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.
  • Hauser N; Inherited Metabolic Diseases Clinic, Valley Children's Hospital, Madera, CA, USA.
  • Heese B; Children's Mercy Hospitals and Clinics, Kansas City, MO, USA.
  • Horvath G; Inherited Metabolic Diseases Clinic, University of British Columbia, Vancouver, Canada.
  • Mattman A; Inherited Metabolic Diseases Clinic, University of British Columbia, Vancouver, Canada.
  • van Karnebeek C; Inherited Metabolic Diseases Clinic, University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, Department of Pediatrics, University of British Columbia, Vancouver, Canada.
  • Lane Rutledge S; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Williamson A; Program for Inherited Metabolic Diseases, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Estrella L; Program for Inherited Metabolic Diseases, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Van Hove JKL; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.
  • Weisfeld-Adams JD; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.
Mitochondrion ; 44: 58-64, 2019 01.
Article en En | MEDLINE | ID: mdl-29307858
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: Deficiencia Múltiple de Carboxilasa / ATPasas de Translocación de Protón Mitocondriales / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mitochondrion Año: 2019 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: Deficiencia Múltiple de Carboxilasa / ATPasas de Translocación de Protón Mitocondriales / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mitochondrion Año: 2019 Tipo del documento: Article