Lee DH - Search Results

1

Pilot study of mass screening for Wilson's disease in Korea.

Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH. Hahn SH, et al. Among authors: lee dh, lee sy, lee js. Mol Genet Metab. 2002 Jun;76(2):133-6. doi: 10.1016/s1096-7192(02)00026-4. Mol Genet Metab. 2002. PMID: 12083810

2

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.

Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH. Yoon HR, et al. Among authors: lee dh, lee kr. Clin Chim Acta. 2005 Apr;354(1-2):167-80. doi: 10.1016/j.cccn.2004.11.032. Clin Chim Acta. 2005. PMID: 15748614

3

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

Lee YW, Lee DH, Vockley J, Kim ND, Lee YK, Ki CS. Lee YW, et al. Among authors: lee dh, lee yk. Mol Genet Metab. 2007 Sep-Oct;92(1-2):71-7. doi: 10.1016/j.ymgme.2007.05.003. Epub 2007 Jun 18. Mol Genet Metab. 2007. PMID: 17576084 Free PMC article.

4

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S. Shibata N, et al. Among authors: lee dh. Mol Genet Metab Rep. 2018 May 21;16:5-10. doi: 10.1016/j.ymgmr.2018.05.003. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29946514 Free PMC article.

5

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW. Choi JH, et al. Among authors: lee dh, lee bh. Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387. Medicine (Baltimore). 2017. PMID: 28723748 Free PMC article.

6

The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.

Park HD, Park KU, Kim JQ, Shin CH, Yang SW, Lee DH, Song YH, Song J. Park HD, et al. Among authors: lee dh. Genet Med. 2005 Nov-Dec;7(9):646-9. doi: 10.1097/01.gim.0000194023.27802.2d. Genet Med. 2005. PMID: 16301867 Free article.

7

Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea.

Yoon HR, Lee KR, Kim H, Kang S, Ha Y, Lee DH. Yoon HR, et al. Among authors: lee dh, lee kr. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:115-20. Southeast Asian J Trop Med Public Health. 2003. PMID: 15906713

8

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Lu YB, et al. Among authors: lee dh. J Hum Genet. 2005;50(7):338-346. doi: 10.1007/s10038-005-0262-8. Epub 2005 Jul 30. J Hum Genet. 2005. PMID: 16059747

9

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Lee SJ, Lee DH, Yoo HW, Koo SK, Park ES, Park JW, Lim HG, Jung SC. Lee SJ, et al. Among authors: lee dh. J Hum Genet. 2005;50(12):648-54. doi: 10.1007/s10038-005-0312-2. Epub 2005 Oct 5. J Hum Genet. 2005. PMID: 16205833

10

Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene.

Jung SY, Lee J, Lee DH. Jung SY, et al. Among authors: lee dh, lee j. Ann Pediatr Endocrinol Metab. 2020 Mar;25(1):57-62. doi: 10.6065/apem.2020.25.1.57. Epub 2020 Mar 31. Ann Pediatr Endocrinol Metab. 2020. PMID: 32252219 Free PMC article.

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