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Items: 1 to 20 of 53

1.

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.

PMID:
24137762
2.

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.

Braissant O.

J Inherit Metab Dis. 2012 Jul;35(4):655-64. doi: 10.1007/s10545-011-9433-2. Epub 2012 Jan 18. Review.

PMID:
22252611
3.

Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency.

Skelton MR, Schaefer TL, Graham DL, Degrauw TJ, Clark JF, Williams MT, Vorhees CV.

PLoS One. 2011 Jan 13;6(1):e16187. doi: 10.1371/journal.pone.0016187.

4.

Dietary ketosis enhances memory in mild cognitive impairment.

Krikorian R, Shidler MD, Dangelo K, Couch SC, Benoit SC, Clegg DJ.

Neurobiol Aging. 2012 Feb;33(2):425.e19-27. doi: 10.1016/j.neurobiolaging.2010.10.006. Epub 2010 Dec 3.

5.

A high-fat diet impairs neurogenesis: involvement of lipid peroxidation and brain-derived neurotrophic factor.

Park HR, Park M, Choi J, Park KY, Chung HY, Lee J.

Neurosci Lett. 2010 Oct 4;482(3):235-9. doi: 10.1016/j.neulet.2010.07.046. Epub 2010 Jul 27.

PMID:
20670674
6.

Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.

Braissant O, Béard E, Torrent C, Henry H.

Neurobiol Dis. 2010 Feb;37(2):423-33. doi: 10.1016/j.nbd.2009.10.022. Epub 2009 Oct 29.

PMID:
19879361
7.

Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.

Ireland Z, Russell AP, Wallimann T, Walker DW, Snow R.

BMC Dev Biol. 2009 Jul 1;9:39. doi: 10.1186/1471-213X-9-39.

8.

Creatine transporter deficiency in two adult patients with static encephalopathy.

Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S91-6. doi: 10.1007/s10545-009-1083-2. Epub 2009 Mar 25. Review.

PMID:
19319661
9.

Arginine supplementation in four patients with X-linked creatine transporter defect.

Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J.

J Inherit Metab Dis. 2008 Dec;31(6):724-8. doi: 10.1007/s10545-008-0902-1. Epub 2008 Oct 16.

PMID:
18925426
10.

Expression and possible role of creatine transporter in the brain and at the blood-cerebrospinal fluid barrier as a transporting protein of guanidinoacetate, an endogenous convulsant.

Tachikawa M, Fujinawa J, Takahashi M, Kasai Y, Fukaya M, Sakai K, Yamazaki M, Tomi M, Watanabe M, Sakimura K, Terasaki T, Hosoya K.

J Neurochem. 2008 Nov;107(3):768-78. doi: 10.1111/j.1471-4159.2008.05652.x. Epub 2008 Sep 20.

11.

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.

Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandri MG, Bianchi MC, Cioni G.

Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821.

PMID:
18569740
12.

Screening of male patients with autism spectrum disorder for creatine transporter deficiency.

Newmeyer A, deGrauw T, Clark J, Chuck G, Salomons G.

Neuropediatrics. 2007 Dec;38(6):310-2. doi: 10.1055/s-2008-1065353.

PMID:
18461508
13.

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R.

Clin Biochem. 2007 Nov;40(16-17):1328-31. Epub 2007 Aug 10.

PMID:
17825809
14.

The creatine kinase/creatine connection to Alzheimer's disease: CK-inactivation, APP-CK complexes and focal creatine deposits.

Bürklen TS, Schlattner U, Homayouni R, Gough K, Rak M, Szeghalmi A, Wallimann T.

J Biomed Biotechnol. 2006;2006(3):35936.

15.

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C.

Neurology. 2006 Aug 8;67(3):480-4. Epub 2006 Jul 19.

PMID:
16855203
16.

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

Póo-Argüelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G.

J Inherit Metab Dis. 2006 Feb;29(1):220-3.

PMID:
16601898
17.

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C.

Clin Chim Acta. 2005 Nov;361(1-2):1-9. Review.

PMID:
16169544
18.

Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging.

Newmeyer A, Cecil KM, Schapiro M, Clark JF, Degrauw TJ.

J Dev Behav Pediatr. 2005 Aug;26(4):276-82.

PMID:
16100500
19.

Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.

Braissant O, Henry H, Villard AM, Speer O, Wallimann T, Bachmann C.

BMC Dev Biol. 2005 May 26;5:9.

20.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS.

Am J Med Genet A. 2005 Jan 30;132A(3):288-95.

PMID:
15690373
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