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Journal Abstract Search

149 related items for PubMed ID: 37414610

  • 1. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
    Pillai NR, Fabie NAV, Kaye TV, Rosendahl SD, Ahmed A, Hietala AD, Jorgenson AB, Lanpher BC, Whitley CB.
    Mol Genet Metab; 2023; 140(1-2):107633. PubMed ID: 37414610
    [Abstract] [Full Text] [Related]

  • 2. 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; 164A(1):54-61. PubMed ID: 24243590
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  • 3. 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; 122(3):99-107. PubMed ID: 28951071
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  • 4. 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 Nov; 134(1-2):20-28. PubMed ID: 34602357
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  • 5. 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; 33():100929. PubMed ID: 36310651
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  • 6. 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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  • 8. Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
    Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C.
    Clin Chem; 2017 Apr 18; 63(4):842-851. PubMed ID: 28196920
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  • 9. Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
    Liao HC, Chan MJ, Yang CF, Chiang CC, Niu DM, Huang CK, Gelb MH.
    Clin Chem; 2017 Jul 18; 63(7):1271-1277. PubMed ID: 28450385
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  • 10. 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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  • 12. 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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  • 13. Newborn screening for Pompe disease: impact on families.
    Pruniski B, Lisi E, Ali N.
    J Inherit Metab Dis; 2018 Nov 18; 41(6):1189-1203. PubMed ID: 29594646
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  • 15. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
    Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS, Pompe ADVANCE Study Consortium.
    Genet Med; 2018 Oct 18; 20(10):1284-1294. PubMed ID: 29565424
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  • 16. Pompe disease: early diagnosis and early treatment make a difference.
    Chien YH, Hwu WL, Lee NC.
    Pediatr Neonatol; 2013 Aug 18; 54(4):219-27. PubMed ID: 23632029
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  • 17. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
    McIntosh P, Austin S, Sullivan J, Bailey L, Bailey C, Viskochil D, Kishnani PS.
    Am J Med Genet A; 2017 Oct 18; 173(10):2628-2634. PubMed ID: 28763149
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  • 18. 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. 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 22; 66(11):1089-1099. PubMed ID: 33972680
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