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Journal Abstract Search

171 related items for PubMed ID: 29624230

  • 1. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
    Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO.
    Turk J Pediatr; 2017; 59(4):471-474. PubMed ID: 29624230
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  • 2. 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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  • 6. 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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  • 7. 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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  • 8. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M.
    J Inherit Metab Dis; 2017 May; 40(3):415-422. PubMed ID: 28255778
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  • 9. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
    Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E.
    J Hum Genet; 2019 Feb; 64(2):99-111. PubMed ID: 30393371
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  • 10. 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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  • 13. Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.
    Wang Y, Gao Q, Wang W, Xin X, Yin Y, Zhao C, Jin Y.
    J Pediatr Endocrinol Metab; 2022 Sep 27; 35(9):1194-1200. PubMed ID: 35850931
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  • 16. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N.
    Mol Genet Metab; 2010 Aug 27; 100(4):339-44. PubMed ID: 20488739
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  • 17. 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 Aug 27; 66(6):1802-1804. PubMed ID: 30504584
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  • 18. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T.
    Hum Mutat; 1995 Aug 27; 5(1):94-6. PubMed ID: 7728155
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  • 19. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
    Grünert SC, Sass JO.
    Orphanet J Rare Dis; 2020 Apr 28; 15(1):106. PubMed ID: 32345314
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  • 20. 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 28; 33 Suppl 3(Suppl 3):S91-4. PubMed ID: 20157782
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