Methods for the diagnosis of creatine deficiency syndromes: A comparative study

The increasing number of patients with creatine deficiency syndromes (CDS) stresses the need to develop screening procedures for the identification these inherited disorders. Guanidinoacetate (GAA) and creatine (Cr) are reliable biochemical markers of CDS and several analytical methods to measure bo...

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Veröffentlicht in:	Journal of neuroscience methods 2006-09, Vol.156 (1), p.305-309
Hauptverfasser:	Arias, Angela, Ormazabal, Aida, Moreno, Juan, González, Bernardino, Vilaseca, Maria Antonia, García-Villoria, Judit, Pàmpols, Teresa, Briones, Paz, Artuch, Rafael, Ribes, Antonia
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Aging - metabolism Biomarkers Child Child, Preschool Chromatography, High Pressure Liquid Creatine - blood Creatine - deficiency Creatine - urine Creatine deficiency syndromes Creatinine Creatinine - blood Creatinine - urine Female Gas Chromatography-Mass Spectrometry Glycine - analogs & derivatives Glycine - blood Glycine - urine Guanidinoacetate Humans Indicators and Reagents Infant Male Mass Spectrometry Paediatric patients Purine-Pyrimidine Metabolism, Inborn Errors - blood Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis Purine-Pyrimidine Metabolism, Inborn Errors - urine Reference Standards
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