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Journal Abstract Search

125 related items for PubMed ID: 1319041

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  • 2. Beta-ketothiolase deficiency. A case report.
    Altintaş B, Teziç T, Coşkun T, Ozalp I, Kükner S, Kaya A.
    Turk J Pediatr; 1992; 34(1):43-6. PubMed ID: 1509529
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  • 4. 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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  • 6. [Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina].
    de Kremer RD, de Boldini CD, Kelley RI, Civallero GE.
    Medicina (B Aires); 1997 Jan 01; 57(1):52-8. PubMed ID: 9435370
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  • 8. Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.
    Millington DS, Roe CR, Maltby DA.
    Biomed Environ Mass Spectrom; 1987 Dec 01; 14(12):711-6. PubMed ID: 3435793
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  • 10. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
    Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO.
    Turk J Pediatr; 2017 Dec 01; 59(4):471-474. PubMed ID: 29624230
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  • 11. Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.
    Schutgens RB, Middleton B, vd Blij JF, Oorthuys JW, Veder HA, Vulsma T, Tegelaers WH.
    Eur J Pediatr; 1982 Sep 01; 139(1):39-42. PubMed ID: 7173255
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  • 12. The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
    Duran M, Bruinvis L, Ketting D, Kamerling JP, Wadman SK, Schutgens RB.
    Biomed Mass Spectrom; 1982 Jan 01; 9(1):1-5. PubMed ID: 7059658
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  • 14. 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 01; 36(6):537-40. PubMed ID: 23958592
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  • 15. Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
    Ngu LH, Zabedah MY, Shanti B, Teh SH.
    Malays J Pathol; 2008 Dec 01; 30(2):109-14. PubMed ID: 19291920
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  • 16. Beta-ketothiolase deficiency in a Malaysian infant.
    Rajan D, Constance LSL, Brandon P.
    Med J Malaysia; 2019 Apr 01; 74(2):174-175. PubMed ID: 31079130
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