287 related articles for article (PubMed ID: 29384270)
21. 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]
22. Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P; Merinero B; Ruiz-Sala P; Richard E; Navarrete R; Arias A; Ribes A; Artuch R; Campistol J; Ugarte M; Rodríguez-Pombo P
Hum Mutat; 2011 Mar; 32(3):282-91. PubMed ID: 21140503
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. 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]
27. Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency.
Ullio-Gamboa G; Udobi KC; Dezard S; Perna MK; Miles KN; Costa N; Taran F; Pruvost A; Benoit JP; Skelton MR; Lonlay P; Mabondzo A
Nanomedicine (Lond); 2019 Jun; 14(12):1579-1593. PubMed ID: 31038003
[TBL] [Abstract][Full Text] [Related]
28. Dodecyl creatine ester therapy: from promise to reality.
Mabondzo A; van de Kamp J; Mercimek-Andrews S
Cell Mol Life Sci; 2024 Apr; 81(1):186. PubMed ID: 38632116
[TBL] [Abstract][Full Text] [Related]
29. 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; 142(1):108362. PubMed ID: 38452609
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Sanders K; Peck D; Bentz Pino G; Studinski Jones A; White A; Gavrilov D; Matern D; Oglesbee D; Schultz M; Tortorelli S; Hall PL
Mol Genet Metab; 2024 May; 142(1):108455. PubMed ID: 38531184
[TBL] [Abstract][Full Text] [Related]
32. The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development.
Ghirardini E; Calugi F; Sagona G; Di Vetta F; Palma M; Battini R; Cioni G; Pizzorusso T; Baroncelli L
Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440297
[TBL] [Abstract][Full Text] [Related]
33. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Valayannopoulos V; Bakouh N; Mazzuca M; Nonnenmacher L; Hubert L; Makaci FL; Chabli A; Salomons GS; Mellot-Draznieks C; Brulé E; de Lonlay P; Toulhoat H; Munnich A; Planelles G; de Keyzer Y
J Inherit Metab Dis; 2013 Jan; 36(1):103-12. PubMed ID: 22644605
[TBL] [Abstract][Full Text] [Related]
34. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Stockler-Ipsiroglu S; van Karnebeek CD
Semin Neurol; 2014 Jul; 34(3):350-6. PubMed ID: 25192512
[TBL] [Abstract][Full Text] [Related]
35. 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; 36(7):630-3. PubMed ID: 24045174
[TBL] [Abstract][Full Text] [Related]
36. Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency.
Kurosawa Y; Degrauw TJ; Lindquist DM; Blanco VM; Pyne-Geithman GJ; Daikoku T; Chambers JB; Benoit SC; Clark JF
J Clin Invest; 2012 Aug; 122(8):2837-46. PubMed ID: 22751104
[TBL] [Abstract][Full Text] [Related]
37. 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; 87(2):141-7. PubMed ID: 24597975
[TBL] [Abstract][Full Text] [Related]
38. X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
van de Kamp JM; Mancini GM; Salomons GS
J Inherit Metab Dis; 2014 Sep; 37(5):715-33. PubMed ID: 24789340
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M; Jaggumantri S; Sargent M; Stockler-Ipsiroglu S; van Karnebeek CD
Mol Genet Metab; 2014 Aug; 112(4):259-74. PubMed ID: 24953403
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
