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163 related items for PubMed ID: 38958145

  • 1. Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
    Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, Diaz-Martinez R.
    Mol Genet Genomic Med; 2024 Jul; 12(7):e2480. PubMed ID: 38958145
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  • 2. [GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].
    Huang YL, Sheng HY, Jia XF, Su XY, Zhao XY, Xie T, Tang CF, Liu SC, Li XZ, Zhang W, Mei HF, Zeng CH, Liu L.
    Zhonghua Er Ke Za Zhi; 2021 Mar 02; 59(3):189-194. PubMed ID: 33657692
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  • 3. Phenotypic implications of pathogenic variant types in Pompe disease.
    Viamonte MA, Filipp SL, Zaidi Z, Gurka MJ, Byrne BJ, Kang PB.
    J Hum Genet; 2021 Nov 02; 66(11):1089-1099. PubMed ID: 33972680
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  • 4. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
    Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH, Pompe ADVANCE Study Consortium.
    Genet Med; 2019 Nov 02; 21(11):2543-2551. PubMed ID: 31086307
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  • 6. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
    Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K.
    J Hum Genet; 2019 Aug 02; 64(8):741-755. PubMed ID: 31076647
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  • 7. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
    Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P, French Pompe Study Group.
    J Inherit Metab Dis; 2018 Nov 02; 41(6):937-946. PubMed ID: 30155607
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  • 12. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
    Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS.
    Mol Genet Metab; 2017 Nov 02; 122(3):99-107. PubMed ID: 28951071
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  • 14. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.
    BMC Med Genet; 2019 Sep 11; 20(1):156. PubMed ID: 31510962
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  • 15. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.
    Neurology; 2007 Jan 09; 68(2):110-5. PubMed ID: 17210890
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