Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall. We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and...

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Veröffentlicht in:	Clinical biochemistry 2007-11, Vol.40 (16), p.1328-1331
Hauptverfasser:	Arias, Angela, Corbella, Marc, Fons, Carmen, Sempere, Angela, García-Villoria, Judit, Ormazabal, Aida, Poo, Pilar, Pineda, Mercé, Vilaseca, María Antonia, Campistol, Jaume, Briones, Paz, Pàmpols, Teresa, Salomons, Gajja S., Ribes, Antonia, Artuch, Rafael
Format:	Artikel
Sprache:	eng
Schlagworte:	Autistic Disorder - genetics Autistic Disorder - urine Cerebral creatine deficiency syndrome Child Child, Preschool Creatine Creatine - urine Creatine transporter deficiency Creatinine Creatinine - urine Glycine - analogs & derivatives Glycine - metabolism Guanidinoacetate Humans Infant Intellectual Disability - genetics Intellectual Disability - urine Male Mass Screening - methods Membrane Transport Proteins - deficiency Membrane Transport Proteins - genetics Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - metabolism Reproducibility of Results Sensitivity and Specificity
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