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Journal Abstract Search
144 related items for PubMed ID: 8892029
1. beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel. Gibson KM, Elpeleg ON, Bennett MJ. J Inherit Metab Dis; 1996; 19(5):698-9. PubMed ID: 8892029 [No Abstract] [Full Text] [Related]
2. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO. Mol Genet Metab; 2017 Sep; 122(1-2):67-75. PubMed ID: 28689740 [Abstract] [Full Text] [Related]
3. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. Søvik O. J Inherit Metab Dis; 1993 Sep; 16(1):46-54. PubMed ID: 8487503 [Abstract] [Full Text] [Related]
4. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Fukao T, Kodama A, Aoyanagi N, Tsukino R, Uemura S, Song XQ, Watanebe H, Kuhara T, Matsumoto I, Orii T, Kondo N. Clin Genet; 1996 Oct; 50(4):263-6. PubMed ID: 9001814 [Abstract] [Full Text] [Related]
5. Beta-ketothiolase deficiency in a Malaysian infant. Rajan D, Constance LSL, Brandon P. Med J Malaysia; 2019 Apr; 74(2):174-175. PubMed ID: 31079130 [Abstract] [Full Text] [Related]
6. [A case of beta-ketothiolase deficiency]. Zhan JY, Liang L, Dong GP. Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):703-4. PubMed ID: 17217670 [No Abstract] [Full Text] [Related]
15. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T. Brain Dev; 2014 Jun; 36(6):537-40. PubMed ID: 23958592 [Abstract] [Full Text] [Related]