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Results: 1 to 20 of 177

Similar articles for PubMed (Select 18925426)

1.

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
2.

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

Chilosi A, Casarano M, Comparini A, Battaglia FM, Mancardi MM, Schiaffino C, Tosetti M, Leuzzi V, Battini R, Cioni G.

Orphanet J Rare Dis. 2012 Jun 19;7:43. doi: 10.1186/1750-1172-7-43.

3.

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM.

J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10.

4.

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P.

J Inherit Metab Dis. 2012 Jan;35(1):151-7. doi: 10.1007/s10545-011-9358-9. Epub 2011 Jun 10.

PMID:
21660517
5.

Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.

Leuzzi V.

J Child Neurol. 2002 Dec;17 Suppl 3:3S89-97; discussion 3S97. Review.

PMID:
12597058
6.

[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
7.

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R.

Epilepsia. 2007 Jun;48(6):1211-3.

PMID:
17553121
8.

[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.

9.

Biochemical and clinical characteristics of creatine deficiency syndromes.

Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S.

Acta Biochim Pol. 2004;51(4):875-82. Review.

10.

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
11.

Creatine deficiency syndromes.

Schulze A.

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

PMID:
12701824
12.

Inborn errors of creatine metabolism and epilepsy.

Leuzzi V, Mastrangelo M, Battini R, Cioni G.

Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Review.

PMID:
23157605
13.

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. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29. Review.

PMID:
24953403
14.

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.

Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S.

J Inherit Metab Dis. 2003;26(2-3):299-308. Review.

PMID:
12889668
15.

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
16.

Creatine and creatine deficiency syndromes: biochemical and clinical aspects.

Nasrallah F, Feki M, Kaabachi N.

Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Review.

PMID:
20159424
17.

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
18.

Congenital creatine transporter deficiency.

deGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C.

Neuropediatrics. 2002 Oct;33(5):232-8.

PMID:
12536364
19.
20.

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
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