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Journal Abstract Search

144 related items for PubMed ID: 34172897

  • 21. [Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
    Liu N, Feng Y, Jiang M, Kong XD.
    Zhonghua Er Ke Za Zhi; 2019 Dec 02; 57(12):950-954. PubMed ID: 31795562
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  • 22. 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 02; 76(1):76-84. PubMed ID: 19659762
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  • 23. Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
    Liu S, Zhang W, Shi H, Yao F, Wei M, Qiu Z.
    PLoS One; 2016 Jul 02; 11(9):e0163204. PubMed ID: 27662472
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  • 24. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
    Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T.
    Hum Mutat; 2009 Jun 02; 30(6):978-84. PubMed ID: 19370764
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  • 25. A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
    Paton L, Bitoun E, Kenyon J, Priestman DA, Oliver PL, Edwards B, Platt FM, Davies KE.
    J Biol Chem; 2014 Sep 26; 289(39):26709-26721. PubMed ID: 25107912
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  • 26. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
    Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T.
    Am J Med Genet A; 2010 Jan 26; 152A(1):124-32. PubMed ID: 20034096
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  • 27. In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.
    Sperb-Ludwig F, Ludwig NF, Rizowy GM, Velho RV, Schwartz IVD.
    Genet Mol Biol; 2023 Jan 26; 46(3 Suppl 1):e20230117. PubMed ID: 38047750
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  • 28. 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
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  • 32. Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
    Khan MA, Zubaida B, Karim N, Cheema HA, Naeem M.
    J Pediatr Endocrinol Metab; 2020 May 26; 33(5):647-651. PubMed ID: 32238606
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  • 38. Mannose phosphorylation in health and disease.
    Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, Braulke T.
    Eur J Cell Biol; 2010 Jan 26; 89(1):117-23. PubMed ID: 19945768
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  • 39. Mucolipidosis type III, a series of adult patients.
    Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M.
    J Inherit Metab Dis; 2018 Sep 26; 41(5):839-848. PubMed ID: 29704188
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  • 40. 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
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