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Items: 1 to 20 of 96

1.

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.

van de Kamp JM, Jakobs C, Gibson KM, Salomons GS.

J Inherit Metab Dis. 2013 Jan;36(1):155-6. doi: 10.1007/s10545-012-9537-3. Epub 2012 Sep 12. No abstract available.

PMID:
22968583
2.

Epilepsy spectrum in cerebral creatine transporter deficiency.

Fons C, Sempere A, Sanmartí FX, Arias A, Póo P, Pineda M, Ribes A, Merinero B, Vilaseca MA, Salomons GS, Artuch R, Campistol J.

Epilepsia. 2009 Sep;50(9):2168-70. doi: 10.1111/j.1528-1167.2009.02142.x. No abstract available.

3.

1H MR spectroscopy of the brain in Cr transporter defect.

Sijens PE, Verbruggen KT, Oudkerk M, van Spronsen FJ, Soorani-Lunsing RJ.

Mol Genet Metab. 2005 Nov;86(3):421-2. No abstract available.

PMID:
16169765
4.

The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compounds.

Lunardi G, Parodi A, Perasso L, Pohvozcheva AV, Scarrone S, Adriano E, Florio T, Gandolfo C, Cupello A, Burov SV, Balestrino M.

Neuroscience. 2006 Nov 3;142(4):991-7. Epub 2006 Sep 1.

PMID:
16949212
5.

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. doi: 10.1007/s10545-014-9713-8. Epub 2014 May 1. Review.

PMID:
24789340
6.

Effects of amide creatine derivatives in brain hippocampal slices, and their possible usefulness for curing creatine transporter deficiency.

Garbati P, Adriano E, Salis A, Ravera S, Damonte G, Millo E, Balestrino M.

Neurochem Res. 2014 Jan;39(1):37-45. doi: 10.1007/s11064-013-1188-8. Epub 2013 Nov 12.

PMID:
24213972
7.

[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].

Campistol J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch R, Ribes A.

Rev Neurol. 2007 Mar 16-31;44(6):343-7. Spanish.

8.

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.

Cecil KM, DeGrauw TJ, Salomons GS, Jakobs C, Egelhoff JC, Clark JF.

J Comput Assist Tomogr. 2003 Jan-Feb;27(1):44-7.

PMID:
12544242
9.

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.

Kleefstra T, Rosenberg EH, Salomons GS, Stroink H, van Bokhoven H, Hamel BC, de Vries BB.

Clin Genet. 2005 Oct;68(4):379-81. No abstract available.

PMID:
16143026
10.

[Creatine deficiency syndromes].

Cheillan D, Cognat S, Vandenberghe N, Des Portes V, Vianey-Saban C.

Rev Neurol (Paris). 2005 Mar;161(3):284-9. Review. French.

PMID:
15800449
11.

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.

Garcia P, Rodrigues F, Valongo C, Salomons GS, Diogo L.

Pediatr Neurol. 2012 Jan;46(1):39-41. doi: 10.1016/j.pediatrneurol.2011.10.005.

PMID:
22196490
12.

Searching for a therapy of creatine transporter deficiency: some effects of creatine ethyl ester in brain slices in vitro.

Adriano E, Garbati P, Damonte G, Salis A, Armirotti A, Balestrino M.

Neuroscience. 2011 Dec 29;199:386-93. doi: 10.1016/j.neuroscience.2011.09.018. Epub 2011 Sep 19.

PMID:
21963865
13.

Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency.

Braissant O, Cagnon L, Monnet-Tschudi F, Speer O, Wallimann T, Honegger P, Henry H.

Eur J Neurosci. 2008 Apr;27(7):1673-85. doi: 10.1111/j.1460-9568.2008.06126.x.

PMID:
18380667
14.

Creatine deficiency syndromes and the importance of creatine synthesis in the brain.

Braissant O, Henry H, Béard E, Uldry J.

Amino Acids. 2011 May;40(5):1315-24. doi: 10.1007/s00726-011-0852-z. Epub 2011 Mar 10. Review.

PMID:
21390529
15.

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Braissant O, Henry H.

J Inherit Metab Dis. 2008 Apr;31(2):230-9. doi: 10.1007/s10545-008-0826-9. Epub 2008 Apr 4. Review.

PMID:
18392746
16.

Creatine deficiency syndromes.

Schulze A.

Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Review.

PMID:
12701824
17.

Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiency.

Trotier-Faurion A, Dézard S, Taran F, Valayannopoulos V, de Lonlay P, Mabondzo A.

J Med Chem. 2013 Jun 27;56(12):5173-81. doi: 10.1021/jm400545n. Epub 2013 Jun 7.

PMID:
23697594
18.

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G.

Ann Neurol. 2002 Aug;52(2):227-31.

PMID:
12210795
19.

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
20.

The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain.

Ohtsuki S, Tachikawa M, Takanaga H, Shimizu H, Watanabe M, Hosoya K, Terasaki T.

J Cereb Blood Flow Metab. 2002 Nov;22(11):1327-35.

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