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

173 related items for PubMed ID: 22132097

  • 1. 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; 6(11):e27348. PubMed ID: 22132097
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
    Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y.
    J Hum Genet; 2014 Nov; 59(11):609-14. PubMed ID: 25231369
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
    Yang SY, He XY, Olpin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik M.
    Proc Natl Acad Sci U S A; 2009 Sep 01; 106(35):14820-4. PubMed ID: 19706438
    [Abstract] [Full Text] [Related]

  • 6. HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
    Yang SY, He XY, Miller D.
    Mol Genet Metab; 2007 Sep 01; 92(1-2):36-42. PubMed ID: 17618155
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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 01; 18(12):1353-5. PubMed ID: 20664630
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.
    Yang SY, He XY, Isaacs C, Dobkin C, Miller D, Philipp M.
    J Steroid Biochem Mol Biol; 2014 Sep 01; 143():460-72. PubMed ID: 25007702
    [Abstract] [Full Text] [Related]

  • 16. Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
    Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW.
    Biochim Biophys Acta Mol Basis Dis; 2017 Dec 01; 1863(12):3294-3302. PubMed ID: 28888424
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Friend or enemy? Review of 17β-HSD10 and its role in human health or disease.
    Vinklarova L, Schmidt M, Benek O, Kuca K, Gunn-Moore F, Musilek K.
    J Neurochem; 2020 Nov 01; 155(3):231-249. PubMed ID: 32306391
    [Abstract] [Full Text] [Related]

  • 20. Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.
    Richardson A, Berry GT, Garganta C, Abbott MA.
    JIMD Rep; 2017 Nov 01; 32():25-32. PubMed ID: 27295195
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.