Creatine transporter deficiency in two half-brothers
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33551/fullpdf
Reference23 articles.
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2. Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency;Amat di San Filippo;J Biol Chem,2003
3. Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening;Arias;Clin Biochem,2007
4. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency;Betsalel;Neurogenetics,2008
5. Creatine: Endogenous metabolite, dietary, and therapeutic supplement;Brosnan;Annu Rev Nutr,2007
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