These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 37906149)

  • 1. [Clinical and genetic analysis of a child with Cerebral creatine deficiency syndrome due to variant of SLC6A8 gene].
    Zhang Y; Ding Y; Li Y; Zhou S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1397-1403. PubMed ID: 37906149
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 19(1):193. PubMed ID: 30400883
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
    Shen M; Yang G; Chen Z; Yang K; Dong H; Yin C; Cheng Y; Zhang C; Gu F; Yang Y; Tian Y
    Clin Chim Acta; 2022 Jul; 532():29-36. PubMed ID: 35588794
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel
    Tise CG; Palma MJ; Cusmano-Ozog KP; Matalon DR
    J Investig Med High Impact Case Rep; 2023; 11():23247096231154438. PubMed ID: 36752093
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome].
    Zhang Y; Zhang L; Zhou M; Xu Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):686-689. PubMed ID: 34247379
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 33 Suppl 3():S5-11. PubMed ID: 24137762
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
    Joncquel-Chevalier Curt M; Bout MA; Fontaine M; Kim I; Huet G; Bekri S; Morin G; Moortgat S; Moerman A; Cuisset JM; Cheillan D; Vamecq J
    Mol Genet Metab; 2018 Apr; 123(4):463-471. PubMed ID: 29478817
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
    Rostami P; Hosseinpour S; Ashrafi MR; Alizadeh H; Garshasbi M; Tavasoli AR
    Acta Neurol Belg; 2020 Jun; 120(3):511-516. PubMed ID: 31222513
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1].
    Xyu S; Xu C; Lyu Y; Li C; Liu C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb; 39(2):213-215. PubMed ID: 35076923
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
    Sun WH; Zhuang DY; Wang Y; Xiao FF; Wu MY; Dong XR; Zhang P; Wang HJ; Zhou WH; Wu BB
    Zhongguo Dang Dai Er Ke Za Zhi; 2020 May; 22(5):482-487. PubMed ID: 32434645
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability.
    Jangid N; Surana P; Salmonos G; Jain V
    BMJ Case Rep; 2020 Dec; 13(12):. PubMed ID: 33334757
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 768():145260. PubMed ID: 33164824
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
    Heussinger N; Saake M; Mennecke A; Dörr HG; Trollmann R
    Pediatr Neurol; 2017 Feb; 67():45-52. PubMed ID: 28065824
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
    Mercimek-Mahmutoglu S; Connolly MB; Poskitt KJ; Horvath GA; Lowry N; Salomons GS; Casey B; Sinclair G; Davis C; Jakobs C; Stockler-Ipsiroglu S
    Mol Genet Metab; 2010 Dec; 101(4):409-12. PubMed ID: 20846889
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
    DesRoches CL; Patel J; Wang P; Minassian B; Salomons GS; Marshall CR; Mercimek-Mahmutoglu S
    Gene; 2015 Jul; 565(2):187-91. PubMed ID: 25861866
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
    Yu H; van Karnebeek C; Sinclair G; Hill A; Cui H; Zhang VW; Wong LJ
    Mol Genet Metab; 2013 Dec; 110(4):465-71. PubMed ID: 24140398
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.
    Dezortova M; Jiru F; Petrasek J; Malinova V; Zeman J; Jirsa M; Hajek M
    MAGMA; 2008 Sep; 21(5):327-32. PubMed ID: 18726626
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
    Rosenberg EH; Muñoz CM; Degrauw TJ; Jakobs Cn; Salomons GS
    J Inherit Metab Dis; 2006; 29(2-3):345-6. PubMed ID: 16763899
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
    Betsalel OT; Rosenberg EH; Almeida LS; Kleefstra T; Schwartz CE; Valayannopoulos V; Abdul-Rahman O; Poplawski N; Vilarinho L; Wolf P; den Dunnen JT; Jakobs C; Salomons GS
    Eur J Hum Genet; 2011 Jan; 19(1):56-63. PubMed ID: 20717164
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.
    Yıldız Y; Göçmen R; Yaramış A; Coşkun T; Haliloğlu G
    Pediatrics; 2020 Nov; 146(5):. PubMed ID: 33093139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.