Yoo HW - 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: yoo hw. 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 a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.

Yoo HW, Shin YL, Seo EJ, Kim GH. Yoo HW, et al. Eur J Pediatr. 2002 Jun;161(6):351-3. doi: 10.1007/s00431-002-0931-y. Epub 2002 Apr 16. Eur J Pediatr. 2002. PMID: 12029458

3

Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging.

Kim SS, Kim Y, Shin YL, Kim GH, Kim TU, Yoo HW. Kim SS, et al. Among authors: yoo hw. Horm Res. 2003;60(6):277-83. doi: 10.1159/000074245. Horm Res. 2003. PMID: 14646405

4

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. Among authors: yoo hw. Horm Res. 2005;63(4):200-5. doi: 10.1159/000085557. Epub 2005 Apr 28. Horm Res. 2005. PMID: 15860922

5

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. Among authors: yoo hw. Horm Res. 2005;63(6):294-9. doi: 10.1159/000086745. Epub 2005 Jul 1. Horm Res. 2005. PMID: 15995343

6

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. Among authors: yoo hw. 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.

7

Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.

Kim Y, Kim JS, Kim G, No YJ, Yoo HW. Kim Y, et al. Among authors: yoo hw. Mutat Res. 2006 Jan 29;593(1-2):116-20. doi: 10.1016/j.mrfmmm.2005.06.031. Epub 2005 Oct 26. Mutat Res. 2006. PMID: 16256149

8

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: yoo hw. 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

9

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: yoo hw. Hum Mutat. 2006 Nov;27(11):1159. doi: 10.1002/humu.9465. Hum Mutat. 2006. PMID: 17041896

10

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: yoo 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.

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