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PUBMED FOR HANDHELDS

Journal Abstract Search


298 related items for PubMed ID: 34922579

  • 1. Current status of newborn screening for Pompe disease in Japan.
    Sawada T, Kido J, Sugawara K, Momosaki K, Yoshida S, Kojima-Ishii K, Inoue T, Matsumoto S, Endo F, Ohga S, Hirose S, Nakamura K.
    Orphanet J Rare Dis; 2021 Dec 18; 16(1):516. PubMed ID: 34922579
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  • 2. Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
    Gragnaniello V, Pijnappel PWWM, Burlina AP, In 't Groen SLM, Gueraldi D, Cazzorla C, Maines E, Polo G, Salviati L, Di Salvo G, Burlina AB.
    Mol Genet Metab Rep; 2022 Dec 18; 33():100929. PubMed ID: 36310651
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  • 3. 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 18; 164A(1):54-61. PubMed ID: 24243590
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  • 6. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
    Sniderman King L, Pan Y, Nallamilli BRR, Hegde M, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R.
    Mol Genet Metab; 2023 May 18; 139(1):107565. PubMed ID: 37087815
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  • 10. 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 18; 64(8):741-755. PubMed ID: 31076647
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  • 13. 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 18; 21(11):2543-2551. PubMed ID: 31086307
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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. 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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  • 16. Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
    Davids L, Sun Y, Moore RH, Lisi E, Wittenauer A, Wilcox WR, Ali N.
    Mol Genet Metab; 2021 Aug 04; 134(1-2):20-28. PubMed ID: 34602357
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  • 17. Gene Therapy for Pompe Disease: The Time is now.
    Colella P, Mingozzi F.
    Hum Gene Ther; 2019 Oct 04; 30(10):1245-1262. PubMed ID: 31298581
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  • 18. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
    Fukuhara Y, Fuji N, Yamazaki N, Hirakiyama A, Kamioka T, Seo JH, Mashima R, Kosuga M, Okuyama T.
    Mol Genet Metab Rep; 2018 Mar 04; 14():3-9. PubMed ID: 29124014
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  • 19. A Comprehensive Update on Late-Onset Pompe Disease.
    Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M.
    Biomolecules; 2023 Aug 22; 13(9):. PubMed ID: 37759679
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  • 20. 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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