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Items: 1 to 20 of 193

1.

Creatine Deficiency Syndromes.

Mercimek-Mahmutoglu S, Salomons GS.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2009 Jan 15 [updated 2015 Dec 10].

2.

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. Review. Erratum in: Semin Neurol. 2014 Sep;34(4):479.

PMID:
25192512
3.

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. doi: 10.1016/j.biochi.2015.10.022. Review.

PMID:
26542286
4.

Ornithine Transcarbamylase Deficiency.

Lichter-Konecki U, Caldovic L, Morizono H, Simpson K.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Aug 29 [updated 2016 Apr 14].

5.

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.

6.

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. Review.

7.

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
8.

Creatine deficiency syndromes.

Schulze A.

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

PMID:
12701824
10.

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. Review.

PMID:
18392746
11.

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

Stockler S, Schutz PW, Salomons GS.

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

PMID:
18652076
12.

[Cerebral creatine deficiency syndromes].

Malheiro R, Diogo L, Garcia P, Fineza I, Oliveira G.

Acta Med Port. 2012 Nov-Dec;25(6):389-98. Portuguese.

13.

Disorders of creatine transport and metabolism.

Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292.

PMID:
21308988
14.

[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].

Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol J, Artuch R.

Med Clin (Barc). 2009 Nov 21;133(19):745-9. doi: 10.1016/j.medcli.2009.06.065. Spanish.

PMID:
19892372
15.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.

Mol Genet Metab. 2013 Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006.

PMID:
23660394
16.

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ.

Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003.

17.

[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.

18.

[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
19.

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.

Battini R, Leuzzi V, Carducci C, Tosetti M, Bianchi MC, Item CB, Stöckler-Ipsiroglu S, Cioni G.

Mol Genet Metab. 2002 Dec;77(4):326-31.

PMID:
12468279
20.

Phosphorylase Kinase Deficiency.

Goldstein J, Austin S, Kishnani P, Bali D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2011 May 31.

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