234 related articles for article (PubMed ID: 31038003)
1. 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]
2. 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]
3. 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]
4. 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]
5. Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice.
Abdulla ZI; Pahlevani B; Lundgren KH; Pennington JL; Udobi KC; Seroogy KB; Skelton MR
J Mol Neurosci; 2020 Jan; 70(1):102-111. PubMed ID: 31520365
[TBL] [Abstract][Full Text] [Related]
6. Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis.
Chen HR; Zhang-Brotzge X; Morozov YM; Li Y; Wang S; Zhang HH; Kuan IS; Fugate EM; Mao H; Sun YY; Rakic P; Lindquist DM; DeGrauw T; Kuan CY
JCI Insight; 2021 Sep; 6(17):. PubMed ID: 34324436
[TBL] [Abstract][Full Text] [Related]
7. Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
El-Kasaby A; Kasture A; Koban F; Hotka M; Asjad HMM; Kubista H; Freissmuth M; Sucic S
Neuropharmacology; 2019 Dec; 161():107572. PubMed ID: 30885608
[TBL] [Abstract][Full Text] [Related]
8. Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements.
Jaggumantri S; Dunbar M; Edgar V; Mignone C; Newlove T; Elango R; Collet JP; Sargent M; Stockler-Ipsiroglu S; van Karnebeek CD
Pediatr Neurol; 2015 Oct; 53(4):360-363.e2. PubMed ID: 26205312
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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; 35(9):1128-35. PubMed ID: 24962355
[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. Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.
Hautman ER; Kokenge AN; Udobi KC; Williams MT; Vorhees CV; Skelton MR
J Inherit Metab Dis; 2014 Jan; 37(1):63-8. PubMed ID: 23716276
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency.
Trotier-Faurion A; Passirani C; Béjaud J; Dézard S; Valayannopoulos V; Taran F; de Lonlay P; Benoit JP; Mabondzo A
Nanomedicine (Lond); 2015 Jan; 10(2):185-91. PubMed ID: 24559037
[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. 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]
18. 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]
19. Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.
Aydin HI
Indian Pediatr; 2018 Jan; 55(1):67-68. PubMed ID: 29396939
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
