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240 related items for PubMed ID: 37542277

  • 1. Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
    Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH.
    Orphanet J Rare Dis; 2023 Aug 04; 18(1):231. PubMed ID: 37542277
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  • 2. 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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  • 3. CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
    Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y, Davis-Turak J, Neumann J, Wang RY.
    Sci Rep; 2022 Dec 14; 12(1):21576. PubMed ID: 36517654
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  • 6. Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.
    Hamdan MA, Almalik MH, Mirghani HM.
    J Inherit Metab Dis; 2008 Dec 14; 31 Suppl 2():S431-6. PubMed ID: 19067231
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  • 13. The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease.
    Li J, Cui Y, Wang X, Wang Q, Wang H, Yan B.
    Int Heart J; 2020 Jan 31; 61(1):178-182. PubMed ID: 31875618
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  • 16. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
    Yang CF, Liu HC, Hsu TR, Tsai FC, Chiang SF, Chiang CC, Ho HC, Lai CJ, Yang TF, Chuang SY, Lin CY, Niu DM.
    Am J Med Genet A; 2014 Jan 31; 164A(1):54-61. PubMed ID: 24243590
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  • 20. The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
    Al-Hassnan ZN, Khalifa OA, Bubshait DK, Tulbah S, Alkorashy M, Alzaidan H, Alowain M, Rahbeeni Z, Al-Sayed M.
    Mol Genet Metab Rep; 2018 Jun 31; 15():50-54. PubMed ID: 30023291
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