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Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants.
Mustafa, Naira M; Elabd, Nevine E; Selim, Laila A; Abdou, Doaa M; Griffin, Julian L.
Affiliation
  • Mustafa NM; Department of Biochemistry, University of Cambridge, Cambridge CB2 1GA, UK; Department of Chemical Pathology, Faculty of Medicine, Cairo University, Egypt. Electronic address: naira.mustafa@kasralainy.edu.eg.
  • Elabd NE; Department of Chemical Pathology, Faculty of Medicine, Cairo University, Egypt.
  • Selim LA; Department of Paediatrics, Neurology and Metabolic Division, Faculty of Medicine, Cairo University, Egypt; Inherited Metabolic Disease Unit, Centre of Social and Preventive Medicine, Cairo University, Egypt.
  • Abdou DM; Department of Chemical Pathology, Faculty of Medicine, Cairo University, Egypt.
  • Griffin JL; Department of Biochemistry, University of Cambridge, Cambridge CB2 1GA, UK; Biomolecular Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London, UK; The Rowett Institute, Foresterhill Campus, University of Aberdeen, Aberdeen, UK.
Clin Chim Acta ; 536: 70-76, 2022 Nov 01.
Article in En | MEDLINE | ID: mdl-36130657
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Creatine / Guanidinoacetate N-Methyltransferase Type of study: Diagnostic_studies / Risk_factors_studies / Screening_studies Limits: Humans Language: En Journal: Clin Chim Acta Year: 2022 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Creatine / Guanidinoacetate N-Methyltransferase Type of study: Diagnostic_studies / Risk_factors_studies / Screening_studies Limits: Humans Language: En Journal: Clin Chim Acta Year: 2022 Type: Article