https://transhumanist.ru/index.php?action=history&feed=atom&title=SLC6A8 2026-06-12T04:01:10Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=SLC6A8&diff=5066&oldid=prev 2021-05-12T13:27:44Z

<p>Новая страница: «Sodium- and chloride-dependent creatine transporter 1 (CT1) (Creatine transporter 1) (Solute carrier family 6 member 8) ==Publications== {{medline-entry |title=...»</p> <p><b>Новая страница</b></p><div>Sodium- and chloride-dependent creatine transporter 1 (CT1) (Creatine transporter 1) (Solute carrier family 6 member 8)<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=Screening for X-linked creatine transporter ([[SLC6A8]]) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19188083<br /> |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.<br /> |mesh-terms=* Adolescent<br /> * Age Distribution<br /> * Aging<br /> * Child<br /> * Child, Preschool<br /> * Creatine<br /> * Creatinine<br /> * Female<br /> * Genes, X-Linked<br /> * Genetic Testing<br /> * Humans<br /> * Infant<br /> * Infant, Newborn<br /> * Male<br /> * Membrane Transport Proteins<br /> * Tandem Mass Spectrometry<br /> <br /> |full-text-url=https://sci-hub.do/10.1016/j.ymgme.2008.12.020<br /> }}</div>

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