Lee NC - Search Results

1

Functional independence of Taiwanese children with Prader-Willi syndrome.

Lee CL, Lin HY, Tsai LP, Chiu HC, Tu RY, Huang YH, Chien YH, Lee NC, Niu DM, Chao MC, Tsai FJ, Chou YY, Chuang CK, Lin SP. Lee CL, et al. Among authors: lee nc. Am J Med Genet A. 2018 Jun;176(6):1309-1314. doi: 10.1002/ajmg.a.38705. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696774

2

Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism.

Niu DM, Hwang B, Tiu CM, Tsai LP, Yen JL, Lee NC, Lin CY. Niu DM, et al. Among authors: lee nc. Acta Paediatr. 2004 Oct;93(10):1301-6. Acta Paediatr. 2004. PMID: 15499948

3

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

Lee NC, Cheng LY, Liu TT, Hsiao KJ, Chiu PC, Niu DM. Lee NC, et al. Mol Genet Metab. 2006 Feb;87(2):128-34. doi: 10.1016/j.ymgme.2005.09.028. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16364672

4

Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.

Lee NC, Hwang B, Chen CH, Niu DM. Lee NC, et al. J Formos Med Assoc. 2005 Dec;104(12):964-7. J Formos Med Assoc. 2005. PMID: 16607458

5

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

6

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

7

Corneal lesion as the initial manifestation of tyrosinemia type II.

Tsai CP, Lin PY, Lee NC, Niu DM, Lee SM, Hsu WM. Tsai CP, et al. Among authors: lee nc, lee sm. J Chin Med Assoc. 2006 Jun;69(6):286-8. doi: 10.1016/S1726-4901(09)70259-X. J Chin Med Assoc. 2006. PMID: 16863017 Free article.

8

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.

9

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

Liu KM, Liu TT, Lee NC, Cheng LY, Hsiao KJ, Niu DM. Liu KM, et al. Among authors: lee nc. Arch Neurol. 2008 Mar;65(3):387-92. doi: 10.1001/archneur.65.3.387. Arch Neurol. 2008. PMID: 18332253 Clinical Trial.

10

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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