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Items: 1 to 20 of 34

1.

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D.

J Pediatr. 1997 Oct;131(4):626-31.

PMID:
9386672
2.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Stockler S, Schutz PW, Salomons GS.

Subcell Biochem. 2007;46:149-66. Review.

PMID:
18652076
3.

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
4.

Creatine deficiency syndromes.

Schulze A.

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

PMID:
12701824
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.

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.

7.

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.

8.

[Diagnosis and treatment of brain creatine deficiency syndromes].

Arias-Dimas A, Vilaseca MA, Artuch R, Ribes A, Campistol J.

Rev Neurol. 2006 Sep 1-15;43(5):302-8. Review. Spanish.

9.

[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
10.

In vivo magnetic resonance spectroscopy of transgenic mice with altered expression of guanidinoacetate methyltransferase and creatine kinase isoenzymes.

Heerschap A, Kan HE, Nabuurs CI, Renema WK, Isbrandt D, Wieringa B.

Subcell Biochem. 2007;46:119-48. Review.

PMID:
18652075
11.

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
12.

Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.

Stockler-Ipsiroglu S, van Karnebeek CD.

Semin Neurol. 2014 Jul;34(3):350-6. doi: 10.1055/s-0034-1386772. Epub 2014 Sep 5. Review. Erratum in: Semin Neurol. 2014 Sep;34(4):479.

PMID:
25192512
13.

Guanidinoacetate methyltransferase deficiency (GAMT).

Gordon N.

Brain Dev. 2010 Feb;32(2):79-81. doi: 10.1016/j.braindev.2009.01.008. Epub 2009 Mar 16. Review.

PMID:
19289269
14.

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
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.

X-linked creatine transporter defect: an overview.

Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C.

J Inherit Metab Dis. 2003;26(2-3):309-18. Review.

PMID:
12889669
17.

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.

Clark JF, Cecil KM.

Pediatr Res. 2015 Mar;77(3):398-405. doi: 10.1038/pr.2014.203. Epub 2014 Dec 18. Review.

PMID:
25521922
18.
19.

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
20.

Creatine deficiency syndromes.

Schulze A.

Handb Clin Neurol. 2013;113:1837-43. doi: 10.1016/B978-0-444-59565-2.00053-8. Review.

PMID:
23622406

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