179 related articles for article (PubMed ID: 32606525)
1. Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency.
Narayan V; Mahay SB; Verma IC; Puri RD
Ann Indian Acad Neurol; 2020; 23(3):347-351. PubMed ID: 32606525
[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. Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature.
Libell JL; Lakhani DA; Balar AB; Khan M; Carpenter JS; Joseph JT
Radiol Case Rep; 2023 Dec; 18(12):4331-4337. PubMed ID: 37808418
[TBL] [Abstract][Full Text] [Related]
4. Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency.
Wojcik M; Morrissey M; Borden K; Teta B; Sicko R; Showers A; Sunny S; Caggana M
Mol Genet Metab; 2022 Mar; 135(3):186-192. PubMed ID: 35120844
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report.
Alhomsi D; Abdalsalam D; Sulaiman R; Bakleh S; Alasmar D
Ann Med Surg (Lond); 2023 May; 85(5):1906-1910. PubMed ID: 37228909
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Ream MA; Lam WKK; Grosse SD; Ojodu J; Jones E; Prosser LA; Rose AM; Comeau AM; Tanksley S; Powell CM; Kemper AR
Pediatrics; 2023 Aug; 152(2):. PubMed ID: 37465909
[TBL] [Abstract][Full Text] [Related]
13. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S; van Karnebeek C; Longo N; Korenke GC; Mercimek-Mahmutoglu S; Marquart I; Barshop B; Grolik C; Schlune A; Angle B; Araújo HC; Coskun T; Diogo L; Geraghty M; Haliloglu G; Konstantopoulou V; Leuzzi V; Levtova A; Mackenzie J; Maranda B; Mhanni AA; Mitchell G; Morris A; Newlove T; Renaud D; Scaglia F; Valayannopoulos V; van Spronsen FJ; Verbruggen KT; Yuskiv N; Nyhan W; Schulze A
Mol Genet Metab; 2014 Jan; 111(1):16-25. PubMed ID: 24268530
[TBL] [Abstract][Full Text] [Related]
14. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Mercimek-Mahmutoglu S; Stoeckler-Ipsiroglu S; Adami A; Appleton R; Araújo HC; Duran M; Ensenauer R; Fernandez-Alvarez E; Garcia P; Grolik C; Item CB; Leuzzi V; Marquardt I; Mühl A; Saelke-Kellermann RA; Salomons GS; Schulze A; Surtees R; van der Knaap MS; Vasconcelos R; Verhoeven NM; Vilarinho L; Wilichowski E; Jakobs C
Neurology; 2006 Aug; 67(3):480-4. PubMed ID: 16855203
[TBL] [Abstract][Full Text] [Related]
15. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
Stöckler S; Marescau B; De Deyn PP; Trijbels JM; Hanefeld F
Metabolism; 1997 Oct; 46(10):1189-93. PubMed ID: 9322805
[TBL] [Abstract][Full Text] [Related]
16. Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
Shen M; Yang G; Chen Z; Yang K; Dong H; Yin C; Cheng Y; Zhang C; Gu F; Yang Y; Tian Y
Clin Chim Acta; 2022 Jul; 532():29-36. PubMed ID: 35588794
[TBL] [Abstract][Full Text] [Related]
17. Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
O'Rourke DJ; Ryan S; Salomons G; Jakobs C; Monavari A; King MD
Dev Med Child Neurol; 2009 May; 51(5):404-7. PubMed ID: 19388150
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Cerebral Creatine Deficiency Affects the Timing of Oligodendrocyte Myelination.
Rosko LM; Gentile T; Smith VN; Manavi Z; Melchor GS; Hu J; Shults NV; Albanese C; Lee Y; Rodriguez O; Huang JK
J Neurosci; 2023 Feb; 43(7):1143-1153. PubMed ID: 36732069
[TBL] [Abstract][Full Text] [Related]
20. Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.
Sun W; Wang Y; Wu M; Wu H; Peng X; Shi Y; Xiao F; Wu B; Zhou W; Lu W
Transl Pediatr; 2023 May; 12(5):927-937. PubMed ID: 37305710
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]