Lee BH - Search Results

1

Biochemical and molecular characterisation of neurological Wilson disease.

Seo GH, Kim YM, Oh SH, Chung SJ, Choi IH, Kim GH, Yum MS, Choi JH, Kim KM, Ko TS, Lee BH, Yoo HW. Seo GH, et al. Among authors: lee bh. J Med Genet. 2018 Sep;55(9):587-593. doi: 10.1136/jmedgenet-2017-105214. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618506

2

Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.

Ko JM, Kim JM, Kim GH, Lee BH, Yoo HW. Ko JM, et al. Among authors: lee bh. Clin Endocrinol (Oxf). 2010 Jul;73(1):66-71. doi: 10.1111/j.1365-2265.2010.03782.x. Epub 2010 Feb 10. Clin Endocrinol (Oxf). 2010. PMID: 20148908

3

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Cheon CK, et al. Among authors: lee bh. Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. Pediatr Neurol. 2010. PMID: 20399395 Review.

4

Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia.

Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW. Lee BH, et al. J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):682-5. doi: 10.1097/MPG.0b013e3181d67fbf. J Pediatr Gastroenterol Nutr. 2010. PMID: 20400906 No abstract available.

5

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

Lee BH, Heo SH, Kim GH, Park JY, Kim WS, Kang DH, Choe KH, Kim WH, Yang SH, Yoo HW. Lee BH, et al. J Hum Genet. 2010 Aug;55(8):512-7. doi: 10.1038/jhg.2010.58. Epub 2010 May 27. J Hum Genet. 2010. PMID: 20505683

6

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease.

Park JY, Mun JH, Lee BH, Heo SH, Kim GH, Yoo HW. Park JY, et al. Among authors: lee bh. Proteomics Clin Appl. 2009 Oct;3(10):1185-1190. doi: 10.1002/prca.200800057. Proteomics Clin Appl. 2009. PMID: 20556197 Free PMC article.

7

Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.

Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ, Yoo HW. Choi JH, et al. Among authors: lee bh, lee sm. J Clin Endocrinol Metab. 2011 Jan;96(1):E130-4. doi: 10.1210/jc.2010-1789. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962017

8

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.

Jin HY, Choi JH, Lee BH, Kim GH, Kim HK, Yoo HW. Jin HY, et al. Among authors: lee bh. Eur J Pediatr. 2011 Apr;170(4):535-8. doi: 10.1007/s00431-010-1342-0. Epub 2010 Nov 6. Eur J Pediatr. 2011. PMID: 21057961

9

Low prevalence of classical galactosemia in Korean population.

Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, Kim GH, Choi JH, Yoo HW. Lee BH, et al. J Hum Genet. 2011 Jan;56(1):94-6. doi: 10.1038/jhg.2010.152. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150919

10

Argininemia presenting with progressive spastic diplegia.

Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW. Lee BH, et al. Pediatr Neurol. 2011 Mar;44(3):218-20. doi: 10.1016/j.pediatrneurol.2010.11.003. Pediatr Neurol. 2011. PMID: 21310339

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