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Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
Staklinski, Stephen J; Snanoudj, Sarah; Guerrot, Anne-Marie; Vanhulle, Catherine; Lecoquierre, François; Bekri, Soumeya; Kilberg, Michael S.
Afiliação
  • Staklinski SJ; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, FL 32610, USA.
  • Snanoudj S; School of Biological Sciences, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
  • Guerrot AM; Department of Metabolic Biochemistry, Rouen University Hospital, F-76000 Rouen, France.
  • Vanhulle C; University Normandie UNIROUEN, CHU Rouen, INSERM U1245, F-76000 Rouen, France.
  • Lecoquierre F; University Normandie UNIROUEN, CHU Rouen, INSERM U1245, F-76000 Rouen, France.
  • Bekri S; Department of Genetics and Reference Center for Developmental Disorders, Rouen University Hospital, F-76000 Rouen, France.
  • Kilberg MS; Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, Rouen University Hospital, F-76000 Rouen, France.
Int J Mol Sci ; 24(1)2022 Dec 29.
Article em En | MEDLINE | ID: mdl-36613999
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-Amônia Ligase / Deficiência Intelectual / Microcefalia / Malformações do Sistema Nervoso Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-Amônia Ligase / Deficiência Intelectual / Microcefalia / Malformações do Sistema Nervoso Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article