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Journal Abstract Search

141 related items for PubMed ID: 27264805

  • 1. [Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].
    Wen P, Chen Z, Wang G, Su Z, Zhang X, Tang G, Cui D, Liu X, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun; 33(3):286-91. PubMed ID: 27264805
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  • 3. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
    Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, Tandurella I, Frisso G, Parenti G, Ruoppolo M, Andria G, Salvatore F.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(Suppl 3):S91-4. PubMed ID: 20157782
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  • 4. 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
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  • 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
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  • 10. [Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency].
    Sun C, Zhang Q, Kong L, Wang Y, Zhang L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb 10; 38(2):166-169. PubMed ID: 33565073
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  • 11. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
    Fukao T, Yamaguchi S, Orii T, Hashimoto T.
    Hum Mutat; 1995 Feb 10; 5(2):113-20. PubMed ID: 7749408
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  • 12. 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 10; 122(1-2):67-75. PubMed ID: 28689740
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  • 13. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
    Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO.
    Turk J Pediatr; 2017 Sep 10; 59(4):471-474. PubMed ID: 29624230
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  • 15. NMR-based urinalysis for beta-ketothiolase deficiency.
    Law CY, Lam CW, Ching CK, Yau KC, Ho TW, Lai CK, Mak CM.
    Clin Chim Acta; 2015 Jan 01; 438():222-5. PubMed ID: 25195009
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  • 18. [Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency].
    Xu F, Han L, Qiu W, Zhang H, Ji W, Chen T, Zhan X, Ye J, Gu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar 10; 36(3):199-202. PubMed ID: 30835345
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  • 20. Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
    Nguyen KN, Abdelkreem E, Colombo R, Hasegawa Y, Can NT, Bui TP, Le HT, Tran MT, Nguyen HT, Trinh HT, Aoyama Y, Sasai H, Yamaguchi S, Fukao T, Vu DC.
    J Inherit Metab Dis; 2017 May 10; 40(3):395-401. PubMed ID: 28220263
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