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Compound heterozygous variants in the
ABCG5
gene in a Korean boy with sitosterolemia
Ga young Bae
, Insung Kim
, Juyoung Sung
, JiHoon Hwang
, Min-Sun Kim
, Ji-Hye Park
, Sung Yoon Cho
Ann Pediatr Endocrinol Metab.
2024;29(5):344-346. Published online October 31, 2024
DOI:
https://doi.org/10.6065/apem.2348030.015
Full text
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Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with
THRB
mutation
Jiyeon Kim
, Eu Seon Noh
, Min-Sun Kim
, Jong-Moon Choi
, Sae-Mi Lee
, Sung Yoon Cho
Ann Pediatr Endocrinol Metab.
2024;29(1):67-69. Published online January 28, 2024
DOI:
https://doi.org/10.6065/apem.2346056.028
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First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
Ari Song
, Minji Im
, Min-Sun Kim
, Eu Seon Noh
, Chiwoo Kim
, Jahyun Jang
, Sae-Mi Lee
, Chang-Seok Ki
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2023;28(1):67-72. Published online January 18, 2022
DOI:
https://doi.org/10.6065/apem.2142134.067
Web of Science 2
Crossref 2
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Supplementary Material
Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
Minji Im
, Ari Song
, Jiyeon Kim
, Min-Sun Kim
, Sae-Mi Lee
, Mi Jin Kim
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2022;27(3):229-235. Published online October 18, 2021
DOI:
https://doi.org/10.6065/apem.2142042.021
Web of Science 2
Crossref 2
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Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome
Min-Sun Kim
, Jiyeon Kim
, Joongbum Cho
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2022;27(2):148-152. Published online October 18, 2021
DOI:
https://doi.org/10.6065/apem.2142022.011
Web of Science 5
Crossref 5
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Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis
Hyojung Park
, Min-Sun Kim
, Jiyeon Kim
, Sae-Mi Lee
, Sung Yoon Cho
, Eun-Gyong Yoo
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2022;27(1):73-77. Published online May 14, 2021
DOI:
https://doi.org/10.6065/apem.2040250.125
Web of Science 2
Crossref 4
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Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
Hosun Bae
, Min-Sun Kim
, Hyojung Park
, Ja-Hyun Jang
, Jong-Moon Choi
, Sae-Mi Lee
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2020;25(1):46-51. Published online March 31, 2020
DOI:
https://doi.org/10.6065/apem.2020.25.1.46
Web of Science 2
Crossref 1
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1
Journal Impact Factor 2.8
Pediatrics Q1
ABOUT
Aims and Scope
About the Journal
Editorial Board
Principles of Transparency and Best Practice
Open Access
Subscription Information
Contact us
ARTICLE CATEGORY
Original Article
Review Article
Case Report
Others
Browse all articles >
BROWSE ARTICLES
New Issue
All Issues
Accepted
Ahead-of Print
Most View
Most Download
Most Cited
Funded Articles
Author Index
AUTHOR INFORMATION
Instructions for Authors
Research and Publication Ethics
Readership
Advertising policies
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Author’s Checklist
E-Submission
Copyright Transfer Agreement