133 related articles for article (PubMed ID: 38531184)
1. 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]
2. 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]
3. 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]
4. 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]
5. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Comeaux MS; Wang J; Wang G; Kleppe S; Zhang VW; Schmitt ES; Craigen WJ; Renaud D; Sun Q; Wong LJ
Mol Genet Metab; 2013 Jul; 109(3):260-8. PubMed ID: 23660394
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. [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
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
Thurm A; Himelstein D; DʼSouza P; Rennert O; Jiang S; Olatunji D; Longo N; Pasquali M; Swedo S; Salomons GS; Carrillo N
J Dev Behav Pediatr; 2016 May; 37(4):322-6. PubMed ID: 27096572
[TBL] [Abstract][Full Text] [Related]
12. 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; 50(7):463-72. PubMed ID: 23644449
[TBL] [Abstract][Full Text] [Related]
13. Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
Mencarelli MA; Tassini M; Pollazzon M; Vivi A; Calderisi M; Falco M; Fichera M; Monti L; Buoni S; Mari F; Engelke U; Wevers RA; Hayek J; Renieri A
Am J Med Genet A; 2011 Oct; 155A(10):2446-52. PubMed ID: 21910234
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?
Mercimek-Mahmutoglu S; Al-Thihli K; Roland E
Mol Genet Metab; 2012 Jun; 106(2):251-2. PubMed ID: 22551696
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8.
Udobi KC; Kokenge AN; Hautman ER; Ullio G; Coene J; Williams MT; Vorhees CV; Mabondzo A; Skelton MR
Genes Brain Behav; 2018 Jul; 17(6):e12461. PubMed ID: 29384270
[TBL] [Abstract][Full Text] [Related]
20. Creatine deficiency syndromes: diagnostic pearls and pitfalls.
Hinnell C; Samuel M; Alkufri F; Ashkan K; Rahman Y; Turner C; Dalton RN; Nashef L
Can J Neurol Sci; 2011 Sep; 38(5):765-7. PubMed ID: 21856584
[No Abstract] [Full Text] [Related]
[Next] [New Search]
