Park HD - Search Results

1

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK. Kim SH, et al. Among authors: park hd, park sw. Ann Clin Lab Sci. 2011 Fall;41(1):84-8. Ann Clin Lab Sci. 2011. PMID: 21325261

2

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Oh SH, Park HD, Ki CS, Choe YH, Lee SY. Oh SH, et al. Among authors: park hd. Clin Chem Lab Med. 2008;46(9):1245-9. doi: 10.1515/CCLM.2008.252. Clin Chem Lab Med. 2008. PMID: 18785866

3

A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.

Park HD, Moon HK, Lee J, Lee M, Lee SY, Kim JW, Ki CS. Park HD, et al. Ann Clin Lab Sci. 2009 Spring;39(2):188-91. Ann Clin Lab Sci. 2009. PMID: 19429807

4

Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.

Park HD, Lee DH, Choi TY, Lee YK, Kim JW, Ki CS, Lee YW. Park HD, et al. Clin Chem Lab Med. 2009;47(8):930-3. doi: 10.1515/CCLM.2009.223. Clin Chem Lab Med. 2009. PMID: 19569981

5

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS. Park HD, et al. Among authors: park ws. Ann Clin Lab Sci. 2009 Fall;39(4):399-404. Ann Clin Lab Sci. 2009. PMID: 19880769

6

Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.

Park HD, Park HK, Chung HS, Lee SY, Kim JW, Ki CS. Park HD, et al. Among authors: park hk. Ann Clin Lab Sci. 2010 Winter;40(1):15-9. Ann Clin Lab Sci. 2010. PMID: 20124325

7

Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.

Park HD, Ki CS, Kim JW, Kim WT, Kim JK. Park HD, et al. Ann Clin Lab Sci. 2010 Winter;40(1):20-5. Ann Clin Lab Sci. 2010. PMID: 20124326

8

Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.

Park CH, Park HD, Lee SY, Kim JW, Sohn YB, Park SW, Jin DK. Park CH, et al. Among authors: park hd, park sw. Ann Clin Lab Sci. 2010 Summer;40(3):261-6. Ann Clin Lab Sci. 2010. PMID: 20689139

9

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK. Sohn YB, et al. Among authors: park hd, park sw. Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589. Am J Med Genet A. 2010. PMID: 21108396

10

Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

Woo HI, Park HD, Lee YW, Lee DH, Ki CS, Lee SY, Kim JW. Woo HI, et al. Among authors: park hd. Korean J Lab Med. 2011 Jan;31(1):54-60. doi: 10.3343/kjlm.2011.31.1.54. Korean J Lab Med. 2011. PMID: 21239873 Free PMC article.

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