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.
2. GABA Transaminase Deficiency With Survival Into Adulthood. Hegde AU; Karnavat PK; Vyas R; DiBacco ML; Grant PE; Pearl PL J Child Neurol; 2019 Mar; 34(4):216-220. PubMed ID: 30644311 [TBL] [Abstract][Full Text] [Related]
3. Personalized medicine approach confirms a milder case of ABAT deficiency. Besse A; Petersen AK; Hunter JV; Appadurai V; Lalani SR; Bonnen PE Mol Brain; 2016 Dec; 9(1):93. PubMed ID: 27903293 [TBL] [Abstract][Full Text] [Related]
4. Clinical aspects of the disorders of GABA metabolism in children. Pearl PL; Gibson KM Curr Opin Neurol; 2004 Apr; 17(2):107-13. PubMed ID: 15021235 [TBL] [Abstract][Full Text] [Related]
5. Phenotyping GABA transaminase deficiency: a case description and literature review. Louro P; Ramos L; Robalo C; Cancelinha C; Dinis A; Veiga R; Pina R; Rebelo O; Pop A; Diogo L; Salomons GS; Garcia P J Inherit Metab Dis; 2016 Sep; 39(5):743-747. PubMed ID: 27376954 [TBL] [Abstract][Full Text] [Related]
6. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Zeiger WA; Sun LR; Bosemani T; Pearl PL; Stafstrom CE Pediatr Neurol; 2016 May; 58():113-5. PubMed ID: 27268762 [TBL] [Abstract][Full Text] [Related]
7. Flumazenil for the Treatment of Refractory Hypersomnolence: Clinical Experience with 153 Patients. Trotti LM; Saini P; Koola C; LaBarbera V; Bliwise DL; Rye DB J Clin Sleep Med; 2016 Oct; 12(10):1389-1394. PubMed ID: 27568889 [TBL] [Abstract][Full Text] [Related]
8. Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. Nagappa M; Bindu PS; Chiplunkar S; Govindaraj P; Narayanappa G; Krishnan A; Bharath MM; Swaminathan A; Saini J; Arvinda HR; Sinha S; Mathuranath PS; Taly AB Brain Dev; 2017 Feb; 39(2):161-165. PubMed ID: 27596361 [TBL] [Abstract][Full Text] [Related]
11. Identification of a familial mutation associated with GABA-transaminase deficiency disease. Medina-Kauwe LK; Nyhan WL; Gibson KM; Tobin AJ Neurobiol Dis; 1998 Aug; 5(2):89-96. PubMed ID: 9746906 [TBL] [Abstract][Full Text] [Related]
12. GABA-transaminase, the liver and infantile autism. Cohen BI Med Hypotheses; 2001 Dec; 57(6):673-4. PubMed ID: 11918424 [TBL] [Abstract][Full Text] [Related]
13. Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Jaeken J; Casaer P; de Cock P; Corbeel L; Eeckels R; Eggermont E; Schechter PJ; Brucher JM Neuropediatrics; 1984 Aug; 15(3):165-9. PubMed ID: 6148708 [TBL] [Abstract][Full Text] [Related]
14. GABA(A) receptor imaging with positron emission tomography in the human newborn: a unique binding pattern. Chugani HT; Kumar A; Muzik O Pediatr Neurol; 2013 Jun; 48(6):459-62. PubMed ID: 23668871 [TBL] [Abstract][Full Text] [Related]
17. Use of subcutaneous flumazenil preparations for the treatment of idiopathic hypersomnia: A case report. Kelty E; Martyn V; O'Neil G; Hulse G J Psychopharmacol; 2014 Jul; 28(7):703-6. PubMed ID: 24554692 [TBL] [Abstract][Full Text] [Related]