241 related articles for article (PubMed ID: 15800449)
1. [Creatine deficiency syndromes].
Cheillan D; Cognat S; Vandenberghe N; Des Portes V; Vianey-Saban C
Rev Neurol (Paris); 2005 Mar; 161(3):284-9. PubMed ID: 15800449
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15625559
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 12889668
[TBL] [Abstract][Full Text] [Related]
4. Creatine deficiency syndromes.
Schulze A
Mol Cell Biochem; 2003 Feb; 244(1-2):143-50. PubMed ID: 12701824
[TBL] [Abstract][Full Text] [Related]
5. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Stockler-Ipsiroglu S; van Karnebeek CD
Semin Neurol; 2014 Jul; 34(3):350-6. PubMed ID: 25192512
[TBL] [Abstract][Full Text] [Related]
6. Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Nasrallah F; Feki M; Kaabachi N
Pediatr Neurol; 2010 Mar; 42(3):163-71. PubMed ID: 20159424
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 26542286
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16941429
[TBL] [Abstract][Full Text] [Related]
9. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J; Thomas-Wilson A; Groopman E; Aggarwal V; Bianconi S; Fernandez R; Hart K; Longo N; Liang N; Reich D; Wallis H; Weaver M; Young S; Mercimek-Andrews S
Mol Genet Metab; 2024 May; 142(1):108362. PubMed ID: 38452609
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 12597058
[TBL] [Abstract][Full Text] [Related]
11. Inborn errors of creatine metabolism and epilepsy.
Leuzzi V; Mastrangelo M; Battini R; Cioni G
Epilepsia; 2013 Feb; 54(2):217-27. PubMed ID: 23157605
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 18392746
[TBL] [Abstract][Full Text] [Related]
13. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S; Schutz PW; Salomons GS
Subcell Biochem; 2007; 46():149-66. PubMed ID: 18652076
[TBL] [Abstract][Full Text] [Related]
14. 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; 157C(1):72-8. PubMed ID: 21308988
[TBL] [Abstract][Full Text] [Related]
15. Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study.
Bianchi MC; Tosetti M; Battini R; Leuzzi V; Alessandri' MG; Carducci C; Antonozzi I; Cioni G
AJNR Am J Neuroradiol; 2007 Mar; 28(3):548-54. PubMed ID: 17353334
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 12468279
[TBL] [Abstract][Full Text] [Related]
17. [Cerebral creatine deficiency syndromes].
Malheiro R; Diogo L; Garcia P; Fineza I; Oliveira G
Acta Med Port; 2012; 25(6):389-98. PubMed ID: 23534590
[TBL] [Abstract][Full Text] [Related]
18. Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Hanna-El-Daher L; Braissant O
Amino Acids; 2016 Aug; 48(8):1877-95. PubMed ID: 26861125
[TBL] [Abstract][Full Text] [Related]
19. Creatine deficiency syndromes.
Schulze A
Handb Clin Neurol; 2013; 113():1837-43. PubMed ID: 23622406
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]