Choi JH - Search Results

1

Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.

Choi Y, Oh A, Lee Y, Kim GH, Choi JH, Yoo HW, Lee BH. Choi Y, et al. Among authors: choi jh. Clin Chim Acta. 2022 Feb 1;526:55-61. doi: 10.1016/j.cca.2021.11.029. Epub 2021 Dec 29. Clin Chim Acta. 2022. PMID: 34973183

2

Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Choi JH, Shin YL, Kim GH, Kim Y, Park S, Park JY, Oh C, Yoo HW. Choi JH, et al. Horm Res. 2005;63(4):200-5. doi: 10.1159/000085557. Epub 2005 Apr 28. Horm Res. 2005. PMID: 15860922

3

Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome.

Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, Yoo HW. Choi JH, et al. Horm Res. 2005;63(6):294-9. doi: 10.1159/000086745. Epub 2005 Jul 1. Horm Res. 2005. PMID: 15995343

4

Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate.

Choi JH, Shin YL, Kim GH, Hong SJ, Yoo HW. Choi JH, et al. Eur J Pediatr. 2006 Feb;165(2):138-9. doi: 10.1007/s00431-005-0009-8. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211396 No abstract available.

5

Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.

Shin YL, Choi JH, Kim GH, Yoo HW. Shin YL, et al. Among authors: choi jh. J Pediatr Endocrinol Metab. 2005 Oct;18(10):999-1005. doi: 10.1515/jpem.2005.18.10.999. J Pediatr Endocrinol Metab. 2005. PMID: 16355813

6

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.

Kim GH, Choi JH, Lee HH, Park S, Kim SS, Yoo HW. Kim GH, et al. Among authors: choi jh. Hum Mutat. 2006 Nov;27(11):1159. doi: 10.1002/humu.9465. Hum Mutat. 2006. PMID: 17041896

7

Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis.

Lee HS, Choi HW, Lim CK, Koong MK, Kang IS, Yoo HW, Choi JH, Jun JH. Lee HS, et al. Among authors: choi jh, choi hw. J Korean Med Sci. 2006 Oct;21(5):794-9. doi: 10.3346/jkms.2006.21.5.794. J Korean Med Sci. 2006. PMID: 17043408 Free PMC article.

8

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.

Choi JH, Yoon HR, Kim GH, Park SJ, Shin YL, Yoo HW. Choi JH, et al. Int J Mol Med. 2007 Jan;19(1):81-7. Int J Mol Med. 2007. PMID: 17143551

9

Short-term efficacy of monthly pamidronate infusion in patients with osteogenesis imperfecta.

Choi JH, Shin YL, Yoo HW. Choi JH, et al. J Korean Med Sci. 2007 Apr;22(2):209-12. doi: 10.3346/jkms.2007.22.2.209. J Korean Med Sci. 2007. PMID: 17449925 Free PMC article. Clinical Trial.

10

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Park S, Park JY, Kim GH, Choi JH, Kim KM, Kim JB, Yoo HW. Park S, et al. Among authors: choi jh. Hum Mutat. 2007 Nov;28(11):1108-13. doi: 10.1002/humu.20574. Hum Mutat. 2007. PMID: 17587212

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