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Journal Abstract Search

131 related items for PubMed ID: 35123877

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  • 2. 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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  • 5. Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis.
    Prakash S, Penn JD, Jackson KE, Dean LW.
    J Genet Couns; 2022 Dec; 31(6):1404-1420. PubMed ID: 35915971
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  • 8. Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
    Puri RD, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, Muranjan M, Bhat M, Girisha KM, Kabra M, Verma J, Thomas DC, Biji I, Raja J, Makkar R, Verma IC, Kishnani PS.
    Neuromuscul Disord; 2021 May; 31(5):431-441. PubMed ID: 33741225
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  • 10. Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
    Lee NC, Chang KL, In 't Groen SLM, de Faria DOS, Huang HJ, Pijnappel WWMP, Hwu WL, Chien YH.
    J Pediatr; 2022 May; 244():139-147.e2. PubMed ID: 34995642
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  • 11. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
    Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP.
    JIMD Rep; 2015 May; 19():67-73. PubMed ID: 25681082
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  • 12. 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 May; 140(1-2):107633. PubMed ID: 37414610
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  • 14. Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
    Jackson DG, Case LE, Huggins E, Holland M, Blount J, Webb LH, Kishnani PS.
    Mol Genet Metab Rep; 2023 Sep; 36():100989. PubMed ID: 37670900
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  • 19. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.
    Burton BK, Kronn DF, Hwu WL, Kishnani PS, Pompe Disease Newborn Screening Working Group.
    Pediatrics; 2017 Jul; 140(Suppl 1):S14-S23. PubMed ID: 29162674
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  • 20. Newborn Screening for Pompe Disease.
    Bodamer OA, Scott CR, Giugliani R, Pompe Disease Newborn Screening Working Group.
    Pediatrics; 2017 Jul; 140(Suppl 1):S4-S13. PubMed ID: 29162673
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