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Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL. Labrousse P, et al. Among authors: lee nc. Mol Genet Metab. 2010 Apr;99(4):379-83. doi: 10.1016/j.ymgme.2009.12.014. Epub 2009 Dec 28. Mol Genet Metab. 2010. PMID: 20080426

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Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.

Lee NC, Chien YH, Kobayashi K, Saheki T, Chen HL, Chiu PC, Ni YH, Chang MH, Hwu WL. Lee NC, et al. J Inherit Metab Dis. 2006 Aug;29(4):551-5. doi: 10.1007/s10545-006-0250-y. Epub 2006 May 30. J Inherit Metab Dis. 2006. PMID: 16736097

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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: lee nc. 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

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Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

Yen TY, Hwu WL, Chien YH, Wu MH, Lin MT, Tsao LY, Hsieh WS, Lee NC. Yen TY, et al. Among authors: lee nc. Eur J Pediatr. 2008 Aug;167(8):941-4. doi: 10.1007/s00431-007-0592-y. Epub 2007 Sep 11. Eur J Pediatr. 2008. PMID: 17846786 Review.

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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: lee nc. Pediatrics. 2008 Jul;122(1):e39-45. doi: 10.1542/peds.2007-2222. Epub 2008 Jun 2. Pediatrics. 2008. PMID: 18519449

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Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan.

Chien YH, Lee NC, Wu ST, Liou JJ, Chen HC, Hwu WL. Chien YH, et al. Among authors: lee nc. Southeast Asian J Trop Med Public Health. 2008 Jan;39(1):154-61. Southeast Asian J Trop Med Public Health. 2008. PMID: 18567456

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Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency.

Chen HW, Chen HL, Ni YH, Lee NC, Chien YH, Hwu WL, Huang YT, Chiu PC, Chang MH. Chen HW, et al. Among authors: lee nc. J Pediatr Gastroenterol Nutr. 2008 Aug;47(2):187-92. doi: 10.1097/MPG.0b013e318162d96d. J Pediatr Gastroenterol Nutr. 2008. PMID: 18664871

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Brain damage by mild metabolic derangements in methylmalonic acidemia.

Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Wu AS, Chen LC, Hsu LW, Tseng SC, Hwu WL. Lee NC, et al. Pediatr Neurol. 2008 Nov;39(5):325-9. doi: 10.1016/j.pediatrneurol.2008.07.018. Pediatr Neurol. 2008. PMID: 18940555

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Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.

Wang SB, Weng WC, Lee NC, Hwu WL, Fan PC, Lee WT. Wang SB, et al. Among authors: lee nc, lee wt. Pediatr Neonatol. 2008 Aug;49(4):145-9. doi: 10.1016/S1875-9572(08)60030-3. Pediatr Neonatol. 2008. PMID: 19054921 Free article. Review.

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Caloric restriction in Alström syndrome prevents hyperinsulinemia.

Lee NC, Marshall JD, Collin GB, Naggert JK, Chien YH, Tsai WY, Hwu WL. Lee NC, et al. Am J Med Genet A. 2009 Feb 15;149A(4):666-8. doi: 10.1002/ajmg.a.32730. Am J Med Genet A. 2009. PMID: 19283853 Free PMC article.

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