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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. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. Chien YH; Lee NC; Huang HJ; Thurberg BL; Tsai FJ; Hwu WL J Pediatr; 2011 Jun; 158(6):1023-1027.e1. PubMed ID: 21232767 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Late onset Pompe disease revealed by newborn screening. Levenson D Am J Med Genet A; 2011 May; 155A(5):fmviii-ix. PubMed ID: 21506259 [No Abstract] [Full Text] [Related]
8. 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]
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10. 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]
13. 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]
14. Newborn screening for pompe disease? a qualitative study exploring professional views. van El CG; Rigter T; Reuser AJ; van der Ploeg AT; Weinreich SS; Cornel MC BMC Pediatr; 2014 Aug; 14():203. PubMed ID: 25124044 [TBL] [Abstract][Full Text] [Related]
15. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Chien YH; Lee NC; Thurberg BL; Chiang SC; Zhang XK; Keutzer J; Huang AC; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL Pediatrics; 2009 Dec; 124(6):e1116-25. PubMed ID: 19948615 [TBL] [Abstract][Full Text] [Related]
16. Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth. Chien YH; Lee NC; Chen CA; Tsai FJ; Tsai WH; Shieh JY; Huang HJ; Hsu WC; Tsai TH; Hwu WL J Pediatr; 2015 Apr; 166(4):985-91.e1-2. PubMed ID: 25466677 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Pompe disease: early diagnosis and early treatment make a difference. Chien YH; Hwu WL; Lee NC Pediatr Neonatol; 2013 Aug; 54(4):219-27. PubMed ID: 23632029 [TBL] [Abstract][Full Text] [Related]
19. 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]
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