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Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.
Demetriou, Kalliope; Nisbet, Janelle; Coman, David; Ewing, Adam D; Phillips, Liza; Smith, Sally; Lipke, Michelle; Inwood, Anita; Spicer, Janette; Atthow, Catherine; Wilgen, Urs; Robertson, Thomas; McWhinney, Avis; Swenson, Rebecca; Espley, Brayden; Snowdon, Brianna; McGill, James J; Summers, Kim M.
Afiliación
  • Demetriou K; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
  • Nisbet J; Queensland Lifespan Metabolic Medicine Service, Mater Hospital Brisbane, South Brisbane, QLD 4101, Australia.
  • Coman D; Queensland Lifespan Metabolic Medicine Service, Mater Hospital Brisbane, South Brisbane, QLD 4101, Australia; Wesley Medical Centre, Auchenflower, QLD 4066, Australia; University of Queensland, St Lucia, QLD 4072, Australia.
  • Ewing AD; Mater Research Institute-University of Queensland, Translational Research Institute, 37 Kent St, Woolloongabba, QLD 4102, Australia.
  • Phillips L; Queensland Lifespan Metabolic Medicine Service, Mater Hospital Brisbane, South Brisbane, QLD 4101, Australia.
  • Smith S; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia; Queensland Lifespan Metabolic Medicine Service, Mater Hospital Brisbane, South Brisbane, QLD 4101, Australia.
  • Lipke M; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia; Queensland Lifespan Metabolic Medicine Service, Mater Hospital Brisbane, South Brisbane, QLD 4101, Australia.
  • Inwood A; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia; Queensland Lifespan Metabolic Medicine Service, Mater Hospital Brisbane, South Brisbane, QLD 4101, Australia; University of Queensland, St Lucia, QLD 4072, Australia.
  • Spicer J; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
  • Atthow C; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
  • Wilgen U; University of Queensland, St Lucia, QLD 4072, Australia; Chemical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Robertson T; University of Queensland, St Lucia, QLD 4072, Australia; Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • McWhinney A; Chemical Pathology, Mater Pathology, Mater Hospital, Mater Hospital Brisbane, QLD 4101, Australia.
  • Swenson R; Chemical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Espley B; Chemical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Snowdon B; Chemical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • McGill JJ; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia; Queensland Lifespan Metabolic Medicine Service, Mater Hospital Brisbane, South Brisbane, QLD 4101, Australia; Chemical Pathology, Pathology Queensland, Royal Brisbane and Women's Hosp
  • Summers KM; Mater Research Institute-University of Queensland, Translational Research Institute, 37 Kent St, Woolloongabba, QLD 4102, Australia. Electronic address: kim.summers@mater.uq.edu.au.
Mol Genet Metab ; 142(4): 108516, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38941880
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Flavoproteínas Transportadoras de Electrones / Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Oceania Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2024 Tipo del documento: Article País de afiliación: Australia
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Flavoproteínas Transportadoras de Electrones / Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Oceania Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2024 Tipo del documento: Article País de afiliación: Australia