These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
209 related articles for article (PubMed ID: 27650626)
1. Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI. Pacheva I; Ivanov I; Penkov M; Kancheva D; Jordanova A; Ivanova M Ann Clin Lab Sci; 2016 Sep; 46(5):557-61. PubMed ID: 27650626 [TBL] [Abstract][Full Text] [Related]
2. Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. Viau KS; Ernst SL; Pasquali M; Botto LD; Hedlund G; Longo N Mol Genet Metab; 2013 Nov; 110(3):255-62. PubMed ID: 24071436 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism. Aydın Hİ; Sönmez FM Turk J Pediatr; 2019; 61(1):92-96. PubMed ID: 31559727 [TBL] [Abstract][Full Text] [Related]
6. Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency. Hart K; Rohrwasser A; Wallis H; Golsan H; Shao J; Anderson T; Wang X; Szabo-Fresnais N; Morrissey M; Kay DM; Wojcik M; Galvin-Parton PA; Longo N; Caggana M; Pasquali M Mol Genet Metab; 2021; 134(1-2):60-64. PubMed ID: 34389248 [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 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]
9. Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate. Mercimek-Mahmutoglu S; Salomons GS; Chan A Pediatr Neurol; 2014 Jul; 51(1):133-7. PubMed ID: 24766785 [TBL] [Abstract][Full Text] [Related]
10. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. Pasquali M; Schwarz E; Jensen M; Yuzyuk T; DeBiase I; Randall H; Longo N J Inherit Metab Dis; 2014 Mar; 37(2):231-6. PubMed ID: 24276113 [TBL] [Abstract][Full Text] [Related]
11. A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. Mercimek-Mahmutoglu S; Pop A; Kanhai W; Fernandez Ojeda M; Holwerda U; Smith D; Loeber JG; Schielen PC; Salomons GS Gene; 2016 Jan; 575(1):127-31. PubMed ID: 26319512 [TBL] [Abstract][Full Text] [Related]
12. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency. Yıldız Y; Ardıçlı D; Göçmen R; Yalnızoğlu D; Topçu M; Coşkun T; Tokatlı A; Haliloğlu G Eur J Paediatr Neurol; 2024 Mar; 49():66-72. PubMed ID: 38394710 [TBL] [Abstract][Full Text] [Related]
13. Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism. Iqbal F Pak J Pharm Sci; 2015 Nov; 28(6):2207-11. PubMed ID: 26639513 [TBL] [Abstract][Full Text] [Related]
19. Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency. Mikati AG; Abu Gheida I; Shamseddine A; Mikati MA; Karam PE Epileptic Disord; 2013 Dec; 15(4):407-16. PubMed ID: 24165373 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]