Редактирование: SLC6A8

Sodium- and chloride-dependent creatine transporter 1 (CT1) (Creatine transporter 1) (Solute carrier family 6 member 8)

==Publications==

{{medline-entry
|title=Screening for X-linked creatine transporter ([[SLC6A8]]) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19188083
|abstract=High urinary creatine to creatinine ratio (U-CrCrtR) is a potential diagnostic marker of X-linked creatine transporter ([[SLC6A8]]) deficiency. We developed a tandem mass-spectrometry method to simultaneously determine urinary creatine and creatinine in 975 individuals (0-18 years). U-CrCrtR increased up to 8 years and decreased thereafter. U-CrCrtR was 2.29 and 2.12 (99th percentile: 1.87) in two males with subsequently confirmed [[SLC6A8]] mutations. The frequency of [[SLC6A8]] deficiency was 2.3% in 157 males at risk.
|mesh-terms=* Adolescent
* Age Distribution
* Aging
* Child
* Child, Preschool
* Creatine
* Creatinine
* Female
* Genes, X-Linked
* Genetic Testing
* Humans
* Infant
* Infant, Newborn
* Male
* Membrane Transport Proteins
* Tandem Mass Spectrometry

|full-text-url=https://sci-hub.do/10.1016/j.ymgme.2008.12.020
}}