255 related articles for article (PubMed ID: 27096572)
21. 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]
22. 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; 11(1):1636. PubMed ID: 33452333
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?
Wang L; Angley MT; Sorich MJ; Young RL; McKinnon RA; Gerber JP
Autism Res; 2010 Oct; 3(5):268-72. PubMed ID: 20589913
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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]
28. 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]
29. A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.
Baroncelli L; Molinaro A; Cacciante F; Alessandrì MG; Napoli D; Putignano E; Tola J; Leuzzi V; Cioni G; Pizzorusso T
Hum Mol Genet; 2016 Oct; 25(19):4186-4200. PubMed ID: 27466184
[TBL] [Abstract][Full Text] [Related]
30. 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; 119():146-65. PubMed ID: 26542286
[TBL] [Abstract][Full Text] [Related]
31. A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.
Wada T; Shimbo H; Osaka H
Amino Acids; 2012 Aug; 43(2):993-7. PubMed ID: 22080216
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. 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]
36. A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study.
Molinaro A; Alessandrì MG; Putignano E; Leuzzi V; Cioni G; Baroncelli L; Pizzorusso T
Sci Rep; 2019 Jan; 9(1):62. PubMed ID: 30635645
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Hanna-El-Daher L; Braissant O
Amino Acids; 2016 Aug; 48(8):1877-95. PubMed ID: 26861125
[TBL] [Abstract][Full Text] [Related]
39. X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mejdahl Nielsen M; Petersen ET; Fenger CD; Ørngreen MC; Siebner HR; Boer VO; Považan M; Lund A; Grønborg SW; Hammer TB
Mol Genet Metab; 2023 Nov; 140(3):107694. PubMed ID: 37708665
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]