Lee BH - Search Results

1

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.

Rhee ES, Kim YB, Lee S, Oh SH, Lee BH, Kim KM, Yoo HW. Rhee ES, et al. Among authors: lee bh, lee s. Pediatr Gastroenterol Hepatol Nutr. 2019 Sep;22(5):479-486. doi: 10.5223/pghn.2019.22.5.479. Epub 2019 Sep 11. Pediatr Gastroenterol Hepatol Nutr. 2019. PMID: 31555573 Free PMC article.

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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