These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

254 related items for PubMed ID: 28875337

  • 41. X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
    García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A.
    Eur J Hum Genet; 2010 Dec; 18(12):1353-5. PubMed ID: 20664630
    [Abstract] [Full Text] [Related]

  • 42. A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
    Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J.
    EMBO Mol Med; 2010 Feb; 2(2):51-62. PubMed ID: 20077426
    [Abstract] [Full Text] [Related]

  • 43. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
    Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E.
    Pediatr Res; 2000 Dec; 48(6):852-5. PubMed ID: 11102558
    [Abstract] [Full Text] [Related]

  • 44. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
    Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J.
    Mol Genet Metab; 2008 Jan; 93(1):30-5. PubMed ID: 17945527
    [Abstract] [Full Text] [Related]

  • 45. Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.
    Fukao T, Yamaguchi S, Wakazono A, Okamoto H, Orii T, Osumi T, Hashimoto T.
    J Inherit Metab Dis; 1992 Jan; 15(5):815-20. PubMed ID: 1359192
    [No Abstract] [Full Text] [Related]

  • 46. Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.
    Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo N.
    Mol Genet Metab; 2002 Mar; 75(3):235-43. PubMed ID: 11914035
    [Abstract] [Full Text] [Related]

  • 47. A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
    Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM.
    RNA Biol; 2016 May 03; 13(5):477-85. PubMed ID: 26950678
    [Abstract] [Full Text] [Related]

  • 48. [Mitochondrial acetoacetyl-CoA thiolase deficiency].
    Fukao T.
    Ryoikibetsu Shokogun Shirizu; 1998 May 03; (18 Pt 1):310-3. PubMed ID: 9590054
    [No Abstract] [Full Text] [Related]

  • 49. Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
    Vilardo E, Rossmanith W.
    Nucleic Acids Res; 2015 May 26; 43(10):5112-9. PubMed ID: 25925575
    [Abstract] [Full Text] [Related]

  • 50. 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 26; 64(2):99-111. PubMed ID: 30393371
    [Abstract] [Full Text] [Related]

  • 51. Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
    Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, Feichtinger RG, Oerum S, Yue WW, Zschocke J.
    Hum Mol Genet; 2014 Jul 01; 23(13):3618-28. PubMed ID: 24549042
    [Abstract] [Full Text] [Related]

  • 52. 3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency.
    Iden P, Middleton B, Robinson BH, Sherwood WG, Gibson KM, Sweetman L, Søvik O.
    Pediatr Res; 1990 Nov 01; 28(5):518-22. PubMed ID: 2255576
    [Abstract] [Full Text] [Related]

  • 53. 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 01; 72(2):109-14. PubMed ID: 11161836
    [Abstract] [Full Text] [Related]

  • 54. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
    Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NT, Pham AT, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TP, Niezen-Koning KE, Wanders RJ, de Koning T, Nguyen LT, Yamaguchi S, Kondo N.
    Mol Genet Metab; 2010 May 01; 100(1):37-41. PubMed ID: 20156697
    [Abstract] [Full Text] [Related]

  • 55. Roles of type 10 17beta-hydroxysteroid dehydrogenase in intracrinology and metabolism of isoleucine and fatty acids.
    He XY, Yang SY.
    Endocr Metab Immune Disord Drug Targets; 2006 Mar 01; 6(1):95-102. PubMed ID: 16611167
    [Abstract] [Full Text] [Related]

  • 56. [Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency].
    Shu JB, Zhang YQ, Jiang SZ, Zhang CH, Meng YT, Wang H, Song L.
    Zhonghua Er Ke Za Zhi; 2013 Oct 01; 51(10):783-6. PubMed ID: 24406234
    [Abstract] [Full Text] [Related]

  • 57. Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
    Sarafoglou K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Harding CO, Rinaldo P.
    Pediatrics; 2011 Jul 01; 128(1):e246-50. PubMed ID: 21669895
    [Abstract] [Full Text] [Related]

  • 58. 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 01; 40(3):395-401. PubMed ID: 28220263
    [Abstract] [Full Text] [Related]

  • 59. Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
    Bennett MJ, Powell S, Swartling DJ, Gibson KM.
    Clin Chem; 1994 Oct 01; 40(10):1879-83. PubMed ID: 7923765
    [Abstract] [Full Text] [Related]

  • 60. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.
    Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B.
    J Inherit Metab Dis; 1991 Oct 01; 14(1):63-74. PubMed ID: 1861461
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 13.