233 related articles for article (PubMed ID: 29229397)
1. Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency.
Adriano E; Gulino M; Arkel M; Salis A; Damonte G; Liessi N; Millo E; Garbati P; Balestrino M
Neurosci Lett; 2018 Feb; 665():217-223. PubMed ID: 29229397
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25192512
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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. PubMed ID: 23660394
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
Rostami P; Hosseinpour S; Ashrafi MR; Alizadeh H; Garshasbi M; Tavasoli AR
Acta Neurol Belg; 2020 Jun; 120(3):511-516. PubMed ID: 31222513
[TBL] [Abstract][Full Text] [Related]
8. Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India.
Passi GR; Pandey S; Devi ARR; Konanki R; Jain AR; Bhatnagar S; Tripathi R; Jain V
Brain Dev; 2022 Apr; 44(4):271-280. PubMed ID: 34974949
[TBL] [Abstract][Full Text] [Related]
9. [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]
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. PubMed ID: 18392746
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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. PubMed ID: 24213972
[TBL] [Abstract][Full Text] [Related]
13. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Sharer JD; Bodamer O; Longo N; Tortorelli S; Wamelink MM; Young S
Genet Med; 2017 Feb; 19(2):256-263. PubMed ID: 28055022
[TBL] [Abstract][Full Text] [Related]
14. Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Clark JF; Cecil KM
Pediatr Res; 2015 Mar; 77(3):398-405. PubMed ID: 25521922
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?
Mercimek-Mahmutoglu S; Al-Thihli K; Roland E
Mol Genet Metab; 2012 Jun; 106(2):251-2. PubMed ID: 22551696
[No Abstract] [Full Text] [Related]
18. Creatine deficiency syndromes: diagnostic pearls and pitfalls.
Hinnell C; Samuel M; Alkufri F; Ashkan K; Rahman Y; Turner C; Dalton RN; Nashef L
Can J Neurol Sci; 2011 Sep; 38(5):765-7. PubMed ID: 21856584
[No Abstract] [Full Text] [Related]
19. Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency.
Trotier-Faurion A; Passirani C; Béjaud J; Dézard S; Valayannopoulos V; Taran F; de Lonlay P; Benoit JP; Mabondzo A
Nanomedicine (Lond); 2015 Jan; 10(2):185-91. PubMed ID: 24559037
[TBL] [Abstract][Full Text] [Related]
20. Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
Braissant O; Béard E; Torrent C; Henry H
Neurobiol Dis; 2010 Feb; 37(2):423-33. PubMed ID: 19879361
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]