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Journal Abstract Search

254 related items for PubMed ID: 28875337

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  • 3. 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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  • 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
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  • 5. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
    Abdelkreem E, Harijan RK, Yamaguchi S, Wierenga RK, Fukao T.
    Hum Mutat; 2019 Oct; 40(10):1641-1663. PubMed ID: 31268215
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  • 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
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  • 9. A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
    Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S, Malik M, Yang SY.
    PLoS One; 2011 Sep; 6(11):e27348. PubMed ID: 22132097
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  • 12. A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
    Yang SY, Dobkin C, He XY, Philipp M, Brown WT.
    Gene; 2013 Feb 25; 515(2):380-4. PubMed ID: 23266819
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  • 14. 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 25; 33 Suppl 3(Suppl 3):S91-4. PubMed ID: 20157782
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  • 16. HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
    Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B.
    Mol Genet Genomic Med; 2019 Dec 25; 7(12):e1000. PubMed ID: 31654490
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  • 17. Hydroxysteroid (17β) dehydrogenase X in human health and disease.
    Yang SY, He XY, Miller D.
    Mol Cell Endocrinol; 2011 Aug 22; 343(1-2):1-6. PubMed ID: 21708223
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  • 18. 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 Aug 22; 5(2):113-20. PubMed ID: 7749408
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  • 20. [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 22; 33(3):286-91. PubMed ID: 27264805
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