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- Creatine_transporter_defect abstract "Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain. The condition was initially described in reports in 2001. Hemizygous males with this condition show intellectual disability, speech delay, seizures, and behavioural abnormalities. Heterozygous females can have varying symptoms. CTD is caused by mutations in the SLC6A8 gene, located at the Xq28 (short arm of the 'sex' chromosome). Clinically, it resembles the two other forms of cerebral creatine deficiencies (CCD's): L-arginine:glycine amidinotransferase deficiency, and guanidinoacetate methyltransferase deficiency.↑".
- Creatine_transporter_defect omim "300352".
- Creatine_transporter_defect thumbnail Creatine_neutral.png?width=300.
- Creatine_transporter_defect wikiPageID "41103769".
- Creatine_transporter_defect wikiPageLength "3617".
- Creatine_transporter_defect wikiPageOutDegree "21".
- Creatine_transporter_defect wikiPageRevisionID "678239340".
- Creatine_transporter_defect wikiPageWikiLink Brain.
- Creatine_transporter_defect wikiPageWikiLink Category:Genetic_disorders.
- Creatine_transporter_defect wikiPageWikiLink Category:X-linked_recessive_disorders.
- Creatine_transporter_defect wikiPageWikiLink Cerebral_creatine_deficiency.
- Creatine_transporter_defect wikiPageWikiLink Creatine.
- Creatine_transporter_defect wikiPageWikiLink Creatinine.
- Creatine_transporter_defect wikiPageWikiLink Developmental_coordination_disorder.
- Creatine_transporter_defect wikiPageWikiLink Epileptic_seizure.
- Creatine_transporter_defect wikiPageWikiLink Genetic_testing.
- Creatine_transporter_defect wikiPageWikiLink Guanidinoacetate_methyltransferase_deficiency.
- Creatine_transporter_defect wikiPageWikiLink Intellectual_disability.
- Creatine_transporter_defect wikiPageWikiLink L-arginine:glycine_amidinotransferase_deficiency.
- Creatine_transporter_defect wikiPageWikiLink SLC6A8.
- Creatine_transporter_defect wikiPageWikiLink Sex_linkage.
- Creatine_transporter_defect wikiPageWikiLink X-linked_intellectual_disability.
- Creatine_transporter_defect wikiPageWikiLink X-linked_recessive_inheritance.
- Creatine_transporter_defect wikiPageWikiLink Zygosity.
- Creatine_transporter_defect wikiPageWikiLinkText "creatine transporter defect".
- Creatine_transporter_defect caption Creatine.
- Creatine_transporter_defect diseasesdb "34691".
- Creatine_transporter_defect genereviewsname "Creatine Deficiency Syndromes".
- Creatine_transporter_defect genereviewsnbk "NBK3794".
- Creatine_transporter_defect name "Creatine transporter defect".
- Creatine_transporter_defect omim "300352".
- Creatine_transporter_defect wikiPageUsesTemplate Template:Infobox_disease.
- Creatine_transporter_defect wikiPageUsesTemplate Template:Reflist.
- Creatine_transporter_defect subject Category:Genetic_disorders.
- Creatine_transporter_defect subject Category:X-linked_recessive_disorders.
- Creatine_transporter_defect hypernym 039;.
- Creatine_transporter_defect type Disease.
- Creatine_transporter_defect type Thing.
- Creatine_transporter_defect type Q12136.
- Creatine_transporter_defect comment "Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain. The condition was initially described in reports in 2001. Hemizygous males with this condition show intellectual disability, speech delay, seizures, and behavioural abnormalities. Heterozygous females can have varying symptoms. CTD is caused by mutations in the SLC6A8 gene, located at the Xq28 (short arm of the 'sex' chromosome).".
- Creatine_transporter_defect label "Creatine transporter defect".
- Creatine_transporter_defect sameAs Q17084842.
- Creatine_transporter_defect sameAs m.0zbz05p.
- Creatine_transporter_defect sameAs Q17084842.
- Creatine_transporter_defect wasDerivedFrom Creatine_transporter_defect?oldid=678239340.
- Creatine_transporter_defect depiction Creatine_neutral.png.
- Creatine_transporter_defect isPrimaryTopicOf Creatine_transporter_defect.
- Creatine_transporter_defect name "Creatine transporter defect".