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Journal Abstract Search

144 related items for PubMed ID: 8892029

  • 41. 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
    [Abstract] [Full Text] [Related]

  • 42. 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
    [No Abstract] [Full Text] [Related]

  • 43. A new case of 2-methylacetoacetyl-CoA thiolase deficiency?
    Renom G, Fontaine M, Rolland MO, Duprey J, Degand PM, Dobbelaere D.
    J Inherit Metab Dis; 2000 Nov 01; 23(7):751-3. PubMed ID: 11117436
    [No Abstract] [Full Text] [Related]

  • 44. The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.
    Fukao T, Zhang GX, Sakura N, Kubo T, Yamaga H, Hazama A, Kohno Y, Matsuo N, Kondo M, Yamaguchi S, Shigematsu Y, Kondo N.
    J Inherit Metab Dis; 2003 Nov 01; 26(5):423-31. PubMed ID: 14518824
    [Abstract] [Full Text] [Related]

  • 45. The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency.
    Pollitt RJ.
    Biomed Mass Spectrom; 1983 Apr 01; 10(4):253-7. PubMed ID: 6133567
    [Abstract] [Full Text] [Related]

  • 46. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
    Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F.
    Am J Hum Genet; 2000 Nov 01; 67(5):1095-103. PubMed ID: 11013134
    [Abstract] [Full Text] [Related]

  • 47. Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency.
    Fontaine M, Briand G, Ser N, Armelin I, Rolland MO, Degand P, Vamecq J.
    Clin Chim Acta; 1996 Nov 15; 255(1):67-83. PubMed ID: 8930414
    [Abstract] [Full Text] [Related]

  • 48. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
    Fukao T, Scriver CR, Kondo N, t2 Collaborative Working Group.
    Mol Genet Metab; 2001 Feb 15; 72(2):109-14. PubMed ID: 11161836
    [Abstract] [Full Text] [Related]

  • 49. Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis.
    Bancel LP, Germain N, Guemann AS, Joncquel Chevalier Curt M, Dessein AF.
    Clin Chem; 2019 Nov 15; 65(11):1460-1462. PubMed ID: 31662337
    [No Abstract] [Full Text] [Related]

  • 50. MRI of pallidal involvement in Beta-ketothiolase deficiency.
    O'Neill ML, Kuo F, Saigal G.
    J Neuroimaging; 2014 Nov 15; 24(4):414-7. PubMed ID: 23163837
    [Abstract] [Full Text] [Related]

  • 51. A treatable new cause of chorea: beta-ketothiolase deficiency.
    Buhaş D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA.
    Mov Disord; 2013 Jul 15; 28(8):1054-6. PubMed ID: 23818432
    [No Abstract] [Full Text] [Related]

  • 52. [Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes].
    Ji W, Tian G, Zhang X, Wang Y, Yang Y, Zhou Z, Guo J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May 10; 41(5):540-545. PubMed ID: 38684297
    [Abstract] [Full Text] [Related]

  • 53. Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.
    Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N.
    Pediatr Res; 2004 Jul 10; 56(1):60-4. PubMed ID: 15128923
    [Abstract] [Full Text] [Related]

  • 54. Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
    Ensenauer R, Niederhoff H, Ruiter JP, Wanders RJ, Schwab KO, Brandis M, Lehnert W.
    Ann Neurol; 2002 May 10; 51(5):656-9. PubMed ID: 12112118
    [Abstract] [Full Text] [Related]

  • 55. 6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.
    Cromby CH, Manning NJ, Pollitt RJ, Powell S, Bennett MJ.
    J Inherit Metab Dis; 1994 May 10; 17(1):81-4. PubMed ID: 7914250
    [Abstract] [Full Text] [Related]

  • 56. 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.
    Ozand PT, Rashed M, Gascon GG, al Odaib A, Shums A, Nester M, Brismar J.
    Brain Dev; 1994 Nov 10; 16 Suppl():38-45. PubMed ID: 7726380
    [Abstract] [Full Text] [Related]

  • 57. Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.
    Fukao T, Yamaguchi S, Nagasawa H, Kano M, Orii T, Fujiki Y, Osumi T, Hashimoto T.
    J Inherit Metab Dis; 1990 Nov 10; 13(5):757-60. PubMed ID: 1978869
    [No Abstract] [Full Text] [Related]

  • 58. Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.
    Riudor E, Ribes A, Perez-Cerda C, Arranz JA, Mora J, Yeste D, Castello F, Christensen B, Sovik O.
    J Inherit Metab Dis; 1995 Nov 10; 18(6):748-9. PubMed ID: 8750614
    [No Abstract] [Full Text] [Related]

  • 59. [Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia].
    Elleau C, Parrot-Roulaud F, Perel Y, Divry P, Rolland MO, Zabot MT, Middleton R, Guillard JM.
    Pediatrie; 1992 Nov 10; 47(3):185-9. PubMed ID: 1319041
    [Abstract] [Full Text] [Related]

  • 60. 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
    [Abstract] [Full Text] [Related]

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