Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency
Author:
Publisher
Elsevier BV
Subject
Radiology, Nuclear Medicine and imaging
Reference23 articles.
1. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport;Almeida;Mol Genet Metab,2004
2. Creatine transporter deficiency: novel mutations and functional studies;Ardon;Mol Genet Metab Rep,2016
3. Urine creatine metabolite panel as a screening test in neurodevelopmental disorders;Bahl;Orphanet J Rare Dis,2020
4. Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene;Battini;Mol Genet Metab,2011
5. Treatment outcome of creatine transporter deficiency: international retrospective cohort study;Bruun;Metab Brain Dis,2018
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