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Journal Abstract Search

304 related items for PubMed ID: 28065824

  • 1. 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
    [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 06; 19(1):193. PubMed ID: 30400883
    [Abstract] [Full Text] [Related]

  • 3. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
    van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.
    J Med Genet; 2013 Jul 06; 50(7):463-72. PubMed ID: 23644449
    [Abstract] [Full Text] [Related]

  • 4. 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 06; 110(4):465-71. PubMed ID: 24140398
    [Abstract] [Full Text] [Related]

  • 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 06; 33 Suppl 3():S5-11. PubMed ID: 24137762
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 565(2):187-91. PubMed ID: 25861866
    [Abstract] [Full Text] [Related]

  • 8. [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 10; 47(1):49-52. PubMed ID: 25803912
    [Abstract] [Full Text] [Related]

  • 9. Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.
    Yıldız Y, Göçmen R, Yaramış A, Coşkun T, Haliloğlu G.
    Pediatrics; 2020 Nov 10; 146(5):. PubMed ID: 33093139
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
    van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS.
    Clin Genet; 2015 Feb 05; 87(2):141-7. PubMed ID: 24597975
    [Abstract] [Full Text] [Related]

  • 12. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
    Stockler-Ipsiroglu S, van Karnebeek CD.
    Semin Neurol; 2014 Jul 05; 34(3):350-6. PubMed ID: 25192512
    [Abstract] [Full Text] [Related]

  • 13. Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
    Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M, Okuda M, Takano K, Wada T, Iai M, Yamashita S, Osaka H.
    Brain Dev; 2014 Aug 05; 36(7):630-3. PubMed ID: 24045174
    [Abstract] [Full Text] [Related]

  • 14. RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
    Nota B, Ndika JD, van de Kamp JM, Kanhai WA, van Dooren SJ, van de Wiel MA, Pals G, Salomons GS.
    Hum Mutat; 2014 Sep 05; 35(9):1128-35. PubMed ID: 24962355
    [Abstract] [Full Text] [Related]

  • 15. 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 05; 123(4):463-471. PubMed ID: 29478817
    [Abstract] [Full Text] [Related]

  • 16. A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.
    Duran-Trio L, Fernandes-Pires G, Simicic D, Grosse J, Roux-Petronelli C, Bruce SJ, Binz PA, Sandi C, Cudalbu C, Braissant O.
    Sci Rep; 2021 Jan 15; 11(1):1636. PubMed ID: 33452333
    [Abstract] [Full Text] [Related]

  • 17. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
    Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MM, Young S.
    Genet Med; 2017 Feb 15; 19(2):256-263. PubMed ID: 28055022
    [Abstract] [Full Text] [Related]

  • 18. Dodecyl creatine ester therapy: from promise to reality.
    Mabondzo A, van de Kamp J, Mercimek-Andrews S.
    Cell Mol Life Sci; 2024 Apr 17; 81(1):186. PubMed ID: 38632116
    [Abstract] [Full Text] [Related]

  • 19. Creatine biosynthesis and transport in health and disease.
    Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J.
    Biochimie; 2015 Dec 17; 119():146-65. PubMed ID: 26542286
    [Abstract] [Full Text] [Related]

  • 20. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
    Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S.
    Mol Genet Metab; 2024 May 17; 142(1):108362. PubMed ID: 38452609
    [Abstract] [Full Text] [Related]

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