Kang E - Search Results

1

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.

Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW. Choi JH, et al. Among authors: kang e. Yonsei Med J. 2017 May;58(3):527-532. doi: 10.3349/ymj.2017.58.3.527. Yonsei Med J. 2017. PMID: 28332357 Free PMC article.

2

Turner syndrome presented with tall stature due to overdosage of the SHOX gene.

Seo GH, Kang E, Cho JH, Lee BH, Choi JH, Kim GH, Seo EJ, Yoo HW. Seo GH, et al. Among authors: kang e. Ann Pediatr Endocrinol Metab. 2015 Jun;20(2):110-3. doi: 10.6065/apem.2015.20.2.110. Epub 2015 Jun 30. Ann Pediatr Endocrinol Metab. 2015. PMID: 26191517 Free PMC article.

3

Endocrine dysfunctions in children with Williams-Beuren syndrome.

Kim YM, Cho JH, Kang E, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW. Kim YM, et al. Among authors: kang e. Ann Pediatr Endocrinol Metab. 2016 Mar;21(1):15-20. doi: 10.6065/apem.2016.21.1.15. Epub 2016 Mar 31. Ann Pediatr Endocrinol Metab. 2016. PMID: 27104174 Free PMC article.

4

Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.

Jeong I, Kang E, Cho JH, Kim GH, Lee BH, Choi JH, Yoo HW. Jeong I, et al. Among authors: kang e. Ann Pediatr Endocrinol Metab. 2016 Mar;21(1):26-30. doi: 10.6065/apem.2016.21.1.26. Epub 2016 Mar 31. Ann Pediatr Endocrinol Metab. 2016. PMID: 27104176 Free PMC article.

5

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.

Kim JH, Lee BH, Hyang Cho J, Kang E, Choi JH, Kim GH, Yoo HW. Kim JH, et al. Among authors: kang e. J Hum Genet. 2016 Nov;61(11):923-929. doi: 10.1038/jhg.2016.78. Epub 2016 Jun 23. J Hum Genet. 2016. PMID: 27334365

6

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

Kim J, Kang E, Kim Y, Kim JM, Lee BH, Murayama K, Kim GH, Choi IH, Kim KM, Yoo HW. Kim J, et al. Among authors: kang e. Mol Genet Metab Rep. 2016 Aug 4;8:74-6. doi: 10.1016/j.ymgmr.2016.06.006. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27536553 Free PMC article.

7

Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.

Cho JH, Kang E, Kim GH, Lee BH, Choi JH, Yoo HW. Cho JH, et al. Among authors: kang e. Ann Pediatr Endocrinol Metab. 2016 Sep;21(3):169-173. doi: 10.6065/apem.2016.21.3.169. Epub 2016 Sep 30. Ann Pediatr Endocrinol Metab. 2016. PMID: 27777911 Free PMC article.

8

Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.

Kim JH, Choi JH, Kang E, Kim YM, Lee BH, Yoo HW. Kim JH, et al. Among authors: kang e. Exp Clin Endocrinol Diabetes. 2017 Mar;125(3):196-201. doi: 10.1055/s-0042-123037. Epub 2017 Jan 10. Exp Clin Endocrinol Diabetes. 2017. PMID: 28073127

9

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

Kim JH, Kang E, Heo SH, Kim GH, Jang JH, Cho EH, Lee BH, Yoo HW, Choi JH. Kim JH, et al. Among authors: kang e. Mol Cell Endocrinol. 2017 Mar 15;444:19-25. doi: 10.1016/j.mce.2017.01.037. Epub 2017 Jan 24. Mol Cell Endocrinol. 2017. PMID: 28130116

10

Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.

Kang E, Kim YM, Kim DH, Yoo HW, Lee BH. Kang E, et al. Medicine (Baltimore). 2017 Feb;96(6):e6063. doi: 10.1097/MD.0000000000006063. Medicine (Baltimore). 2017. PMID: 28178158 Free PMC article.

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