X-linked creatine transporter deficiency
- 6 August 2005
- journal article
- case report
- Published by Springer Nature in neurogenetics
- Vol. 6 (3) , 165-168
- https://doi.org/10.1007/s10048-005-0002-4
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch familiesAmerican Journal of Medical Genetics Part A, 2004
- High Prevalence of SLC6A8 Deficiency in X-Linked Mental RetardationAmerican Journal of Human Genetics, 2004
- Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transportMolecular Genetics and Metabolism, 2004
- X‐linked creatine transporter defect: An overviewJournal of Inherited Metabolic Disease, 2003
- Lack of creatine in muscle and brain in an adult with GAMT deficiencyAnnals of Neurology, 2003
- X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8Annals of Neurology, 2002
- X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency SyndromeAmerican Journal of Human Genetics, 2001
- An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiencyJournal of Pharmaceutical and Biomedical Analysis, 1998