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Journal Abstract Search

226 related items for PubMed ID: 25803912

  • 1. [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
    Nozaki F, Kumada T, Shibata M, Fujii T, Wada T, Osaka H.
    No To Hattatsu; 2015 Jan; 47(1):49-52. PubMed ID: 25803912
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  • 2. A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
    Wang Q, Yang J, Liu Y, Li X, Luo F, Xie J.
    BMC Med Genet; 2018 Nov 06; 19(1):193. PubMed ID: 30400883
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  • 3. Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability.
    Jangid N, Surana P, Salmonos G, Jain V.
    BMJ Case Rep; 2020 Dec 17; 13(12):. PubMed ID: 33334757
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  • 5. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
    Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K.
    J Inherit Metab Dis; 2010 Dec 17; 33 Suppl 3():S5-11. PubMed ID: 24137762
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  • 11. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
    Stockler-Ipsiroglu S, van Karnebeek CD.
    Semin Neurol; 2014 Jul 17; 34(3):350-6. PubMed ID: 25192512
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  • 12. Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.
    Aydin HI.
    Indian Pediatr; 2018 Jan 15; 55(1):67-68. PubMed ID: 29396939
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  • 15. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
    Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N.
    Gene; 2021 Feb 05; 768():145260. PubMed ID: 33164824
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  • 16. Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.
    Tise CG, Palma MJ, Cusmano-Ozog KP, Matalon DR.
    J Investig Med High Impact Case Rep; 2023 Feb 05; 11():23247096231154438. PubMed ID: 36752093
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