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.
133 related articles for article (PubMed ID: 9870212)
1. Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism. Burlina AB; Gibson KM; Ruitenbeek W; Bonafè L; Bennett MJ J Inherit Metab Dis; 1998 Dec; 21(8):864-6. PubMed ID: 9870212 [No Abstract] [Full Text] [Related]
2. [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]
3. 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]
4. 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 [TBL] [Abstract][Full Text] [Related]
5. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Zschocke J; Ruiter JP; Brand J; Lindner M; Hoffmann GF; Wanders RJ; Mayatepek E Pediatr Res; 2000 Dec; 48(6):852-5. PubMed ID: 11102558 [TBL] [Abstract][Full Text] [Related]
6. 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 [TBL] [Abstract][Full Text] [Related]
7. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. Søvik O J Inherit Metab Dis; 1993; 16(1):46-54. PubMed ID: 8487503 [TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene. Su L; Li X; Lin R; Sheng H; Feng Z; Liu L Metab Brain Dis; 2017 Dec; 32(6):2063-2071. PubMed ID: 28875337 [TBL] [Abstract][Full Text] [Related]
9. Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene. Sundaram S; Nair M; Namboodhiri S; Menon RN Neurol India; 2018; 66(6):1802-1804. PubMed ID: 30504584 [No Abstract] [Full Text] [Related]
14. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report. Keating JP; Feigin RD; Tenenbaum SM; Hillman RE Pediatrics; 1972 Dec; 50(6):890-5. PubMed ID: 4636454 [No Abstract] [Full Text] [Related]
15. 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 [TBL] [Abstract][Full Text] [Related]
16. Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation. Coudé FX; Grimber G; Parvy P; Pham Dinh D; Bardet J; Saudubray JM Biochem Biophys Res Commun; 1983 Jul; 114(1):175-82. PubMed ID: 6882421 [TBL] [Abstract][Full Text] [Related]