Annals of Pediatric Endocrinology & Metabolism


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; Full text PubReader ePub Crossref - TDM PDF 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
Cited By 1; Full text PubReader ePub Crossref - TDM PDF


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
Cited By 2; Full text PubReader ePub Crossref - TDM PDF


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
Cited By 1; Full text PubReader ePub Crossref - TDM PDF


A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism: Chiwoo Kim, Min-Sun Kim, Eu-seon Noh, Ga young Bae, Ja-Hyun Jang, Sae-Mi Lee, Sung Yoon Cho, Jeehun Lee, Dong-Kyu Jin; Received May 26, 2022 Accepted August 9, 2022; DOI: https://doi.org/10.6065/apem.2244130.065 [Accepted]; PDF

Search