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

391 related items for PubMed ID: 19617216

  • 1. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
    Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ.
    J Med Genet; 2010 Jan; 47(1):38-48. PubMed ID: 19617216
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
    Kudo M, Brem MS, Canfield WM.
    Am J Hum Genet; 2006 Mar; 78(3):451-63. PubMed ID: 16465621
    [Abstract] [Full Text] [Related]

  • 4. A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
    Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS.
    Eur J Hum Genet; 2014 May; 22(5):594-601. PubMed ID: 24045841
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
    Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.
    Clin Genet; 2009 Jul; 76(1):76-84. PubMed ID: 19659762
    [Abstract] [Full Text] [Related]

  • 7. Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
    Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S.
    J Biol Chem; 2015 Jan 30; 290(5):3045-56. PubMed ID: 25505245
    [Abstract] [Full Text] [Related]

  • 8. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
    Ho CC, Tsung LL, Liu KT, Poon WT.
    BMC Med Genet; 2018 Sep 12; 19(1):162. PubMed ID: 30208878
    [Abstract] [Full Text] [Related]

  • 9. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
    Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD.
    Int J Biochem Cell Biol; 2017 Nov 12; 92():90-94. PubMed ID: 28918368
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No 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. A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.
    Hashemi-Gorji F, Ghafouri-Fard S, Salehpour S, Yassaee VR, Miryounesi M.
    J Pediatr Endocrinol Metab; 2016 Aug 01; 29(8):991-3. PubMed ID: 27180337
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 18. Comparative pathology of murine mucolipidosis types II and IIIC.
    Vogel P, Payne BJ, Read R, Lee WS, Gelfman CM, Kornfeld S.
    Vet Pathol; 2009 Mar 01; 46(2):313-24. PubMed ID: 19261645
    [Abstract] [Full Text] [Related]

  • 19. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
    Tiede S, Cantz M, Spranger J, Braulke T.
    Hum Mutat; 2006 Aug 01; 27(8):830-1. PubMed ID: 16835905
    [Abstract] [Full Text] [Related]

  • 20. Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
    Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV.
    J Hum Genet; 2016 Jun 01; 61(6):555-60. PubMed ID: 26935170
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 20.