Hwu WL - Search Results

1

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. Burton BK, et al. Among authors: hwu wl. Pediatrics. 2017 Jul;140(Suppl 1):S14-S23. doi: 10.1542/peds.2016-0280D. Pediatrics. 2017. PMID: 29162674

2

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; Infantile-Onset Pompe Disease Natural History Study Group. Kishnani PS, et al. Among authors: hwu wl. J Pediatr. 2006 May;148(5):671-676. doi: 10.1016/j.jpeds.2005.11.033. J Pediatr. 2006. PMID: 16737883

3

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

Chien YH, Lee NC, Peng SF, Hwu WL. Chien YH, et al. Among authors: hwu wl. Pediatr Res. 2006 Sep;60(3):349-52. doi: 10.1203/01.pdr.0000233014.84318.4e. Epub 2006 Jul 20. Pediatr Res. 2006. PMID: 16857770

4

Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.

Kemper AR, Hwu WL, Lloyd-Puryear M, Kishnani PS. Kemper AR, et al. Among authors: hwu wl. Pediatrics. 2007 Nov;120(5):e1327-34. doi: 10.1542/peds.2007-0388. Pediatrics. 2007. PMID: 17974725 Review.

5

Early detection of glutaric aciduria type I by newborn screening in Taiwan.

Hsieh CT, Hwu WL, Huang YT, Huang AC, Wang SF, Hu MH, Chien YH. Hsieh CT, et al. Among authors: hwu wl. J Formos Med Assoc. 2008 Feb;107(2):139-44. doi: 10.1016/S0929-6646(08)60127-8. J Formos Med Assoc. 2008. PMID: 18285246 Free article.

6

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. Chien YH, et al. Among authors: hwu wl. Pediatrics. 2008 Jul;122(1):e39-45. doi: 10.1542/peds.2007-2222. Epub 2008 Jun 2. Pediatrics. 2008. PMID: 18519449

7

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

Chen LR, Chen CA, Chiu SN, Chien YH, Lee NC, Lin MT, Hwu WL, Wang JK, Wu MH. Chen LR, et al. Among authors: hwu wl. J Pediatr. 2009 Aug;155(2):271-5.e2. doi: 10.1016/j.jpeds.2009.03.015. Epub 2009 May 31. J Pediatr. 2009. PMID: 19486996

8

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Hwu WL, et al. Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074. Hum Mutat. 2009. PMID: 19621417 Free PMC article.

9

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. Chien YH, et al. Among authors: hwu wl. Pediatrics. 2009 Dec;124(6):e1116-25. doi: 10.1542/peds.2008-3667. Pediatrics. 2009. PMID: 19948615 Clinical Trial.

10

Newborn screening for neuropathic lysosomal storage disorders.

Hwu WL, Chien YH, Lee NC. Hwu WL, et al. J Inherit Metab Dis. 2010 Aug;33(4):381-6. doi: 10.1007/s10545-010-9130-6. Epub 2010 Jun 8. J Inherit Metab Dis. 2010. PMID: 20532820 Review.

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