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Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen, Nicole J; Gunanayagam, Karen; Bournazos, Adam M; Walvekar, Adhish S; Warmoes, Marc O; Semcesen, Liana N; Lunke, Sebastian; Bommireddipalli, Shobhana; Sikora, Tim; Patraskaki, Myrto; Jones, Dean L; Garza, Denisse; Sebire, Dale; Gooley, Samuel; McLean, Catriona A; Naidoo, Parm; Rajasekaran, Mugil; Stroud, David A; Linster, Carole L; Wallis, Mathew; Cooper, Sandra T; Christodoulou, John.
Affiliation
  • Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3002, Australia.
  • Gunanayagam K; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3002, Australia.
  • Bournazos AM; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
  • Walvekar AS; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
  • Warmoes MO; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, Sydney, NSW 2145, Australia.
  • Semcesen LN; Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367 Belvaux, Luxembourg.
  • Lunke S; Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367 Belvaux, Luxembourg.
  • Bommireddipalli S; Department of Biochemistry & Pharmacology, Bio21 Molecular Science & Biotechnology Institute, University of Melbourne, Melbourne, VIC 3002, Australia.
  • Sikora T; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3002, Australia.
  • Patraskaki M; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3002, Australia.
  • Jones DL; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
  • Garza D; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, Sydney, NSW 2145, Australia.
  • Sebire D; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3002, Australia.
  • Gooley S; Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367 Belvaux, Luxembourg.
  • McLean CA; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
  • Naidoo P; School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia.
  • Rajasekaran M; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
  • Stroud DA; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
  • Linster CL; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
  • Wallis M; Department of Anatomical Pathology, Alfred Hospital, Melbourne, VIC 3002, Australia.
  • Cooper ST; Department of Medical Imaging, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
  • Christodoulou J; Department of Medical Imaging, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
Int J Mol Sci ; 24(4)2023 Feb 10.
Article de En | MEDLINE | ID: mdl-36834994
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Commotion de l'encéphale / Encéphalopathies métaboliques / Hydro-lyases Type d'étude: Etiology_studies / Prognostic_studies Limites: Adult / Child / Child, preschool / Humans Langue: En Journal: Int J Mol Sci Année: 2023 Type de document: Article Pays d'affiliation: Australie Pays de publication: Suisse
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Commotion de l'encéphale / Encéphalopathies métaboliques / Hydro-lyases Type d'étude: Etiology_studies / Prognostic_studies Limites: Adult / Child / Child, preschool / Humans Langue: En Journal: Int J Mol Sci Année: 2023 Type de document: Article Pays d'affiliation: Australie Pays de publication: Suisse