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2. 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; Pediatrics; 2017 Jul; 140(Suppl 1):S14-S23. PubMed ID: 29162674 [TBL] [Abstract][Full Text] [Related]
3. The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening. Atherton AM; Day-Salvatore D; Pediatrics; 2017 Jul; 140(Suppl 1):S46-S50. PubMed ID: 29162676 [TBL] [Abstract][Full Text] [Related]
4. Newborn screening for Pompe disease: an update, 2011. Burton BK Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):8-12. PubMed ID: 22253219 [TBL] [Abstract][Full Text] [Related]
5. 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; 134(1-2):20-28. PubMed ID: 34602357 [TBL] [Abstract][Full Text] [Related]
6. Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum. Kronn DF; Day-Salvatore D; Hwu WL; Jones SA; Nakamura K; Okuyama T; Swoboda KJ; Kishnani PS; Pediatrics; 2017 Jul; 140(Suppl 1):S24-S45. PubMed ID: 29162675 [TBL] [Abstract][Full Text] [Related]
7. 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 [TBL] [Abstract][Full Text] [Related]
8. Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study. Lisi EC; Ali N J Genet Couns; 2021 Dec; 30(6):1544-1558. PubMed ID: 33938615 [TBL] [Abstract][Full Text] [Related]
9. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Chien YH; Chiang SC; Zhang XK; Keutzer J; Lee NC; Huang AC; Chen CA; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL Pediatrics; 2008 Jul; 122(1):e39-45. PubMed ID: 18519449 [TBL] [Abstract][Full Text] [Related]
10. Newborn screening for Pompe disease in Japan. Oda E; Tanaka T; Migita O; Kosuga M; Fukushi M; Okumiya T; Osawa M; Okuyama T Mol Genet Metab; 2011 Dec; 104(4):560-5. PubMed ID: 21963784 [TBL] [Abstract][Full Text] [Related]
11. Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement. Kishnani PS; Hwu WL; Pediatrics; 2017 Jul; 140(Suppl 1):S1-S3. PubMed ID: 29162672 [No Abstract] [Full Text] [Related]
12. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Kemper AR; Hwu WL; Lloyd-Puryear M; Kishnani PS Pediatrics; 2007 Nov; 120(5):e1327-34. PubMed ID: 17974725 [TBL] [Abstract][Full Text] [Related]
13. Health and economic outcomes of newborn screening for infantile-onset Pompe disease. Richardson JS; Kemper AR; Grosse SD; Lam WKK; Rose AM; Ahmad A; Gebremariam A; Prosser LA Genet Med; 2021 Apr; 23(4):758-766. PubMed ID: 33281187 [TBL] [Abstract][Full Text] [Related]
14. Public support for neonatal screening for Pompe disease, a broad-phenotype condition. Weinreich SS; Rigter T; van El CG; Dondorp WJ; Kostense PJ; van der Ploeg AT; Reuser AJ; Cornel MC; Hagemans ML Orphanet J Rare Dis; 2012 Mar; 7():15. PubMed ID: 22413814 [TBL] [Abstract][Full Text] [Related]
15. Patients' perspectives on newborn screening for later-onset lysosomal storage diseases. Lisi EC; Gillespie S; Laney D; Ali N Mol Genet Metab; 2016 Sep; 119(1-2):109-14. PubMed ID: 27591925 [TBL] [Abstract][Full Text] [Related]
16. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program. Chiang SC; Hwu WL; Lee NC; Hsu LW; Chien YH Mol Genet Metab; 2012 Jul; 106(3):281-6. PubMed ID: 22578805 [TBL] [Abstract][Full Text] [Related]
17. 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 [TBL] [Abstract][Full Text] [Related]
18. 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; 173(10):2628-2634. PubMed ID: 28763149 [TBL] [Abstract][Full Text] [Related]
19. Newborn screening for Pompe disease: impact on families. Pruniski B; Lisi E; Ali N J Inherit Metab Dis; 2018 Nov; 41(6):1189-1203. PubMed ID: 29594646 [TBL] [Abstract][Full Text] [Related]
20. Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. Rigter T; Weinreich SS; van El CG; de Vries JM; van Gelder CM; Güngör D; Reuser AJ; Hagemans ML; Cornel MC; van der Ploeg AT Mol Genet Metab; 2012 Nov; 107(3):448-55. PubMed ID: 23040796 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]