Annals of Pediatric Endocrinology & Metabolism


Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders: Yoko Kuroki, Atsushi Hattori, Keiko Matsubara, Maki Fukami; Ann Pediatr Endocrinol Metab. 2024;29(3):156-160. Published online June 30, 2024; DOI: https://doi.org/10.6065/apem.2448028.014
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A novel variant of THRβ and its 4-year clinical course in a Korean boy with resistance to thyroid hormone: Sejin Kim, Soyun Park, Jungeun Moon, Heungsik Kim, Seokjin Kang; Ann Pediatr Endocrinol Metab. 2023;28(3):219-224. Published online September 19, 2023; DOI: https://doi.org/10.6065/apem.2142246.123
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Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta: Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi; Ann Pediatr Endocrinol Metab. 2022;27(1):22-29. Published online January 25, 2022; DOI: https://doi.org/10.6065/apem.2142144.072
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Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes: Ana Gutierrez Alvarez, Naomi Yachelevich, Brenda Kohn, Preneet Cheema Brar; Ann Pediatr Endocrinol Metab. 2021;26(4):284-289. Published online October 14, 2021; DOI: https://doi.org/10.6065/apem.2142056.028
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation: Hae In Lee, Ahreum Kwon, Jung Hwan Suh, Han Saem Choi, Kyung Chul Song, Hyun Wook Chae, Ho-Seong Kim; Ann Pediatr Endocrinol Metab. 2021;26(1):66-70. Published online March 31, 2021; DOI: https://doi.org/10.6065/apem.2040184.092
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A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe): Jung Eun Moon, Hee-Young Yang, Gabbine Wee, Suk-Hyun ParK, Cheol Woo Ko; Ann Pediatr Endocrinol Metab. 2021;26(1):24-30. Published online July 30, 2020; DOI: https://doi.org/10.6065/apem.2040022.011
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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets: Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak; Ann Pediatr Endocrinol Metab. 2020;25(1):63-67. Published online March 31, 2020; DOI: https://doi.org/10.6065/apem.2020.25.1.63
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln): Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo; Ann Pediatr Endocrinol Metab. 2019;24(4):253-256. Published online December 31, 2019; DOI: https://doi.org/10.6065/apem.2019.24.4.253
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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene: Seung Heo, Ja-Hyun Jang, Jeesuk Yu; Ann Pediatr Endocrinol Metab. 2019;24(3):199-202. Published online September 30, 2019; DOI: https://doi.org/10.6065/apem.2019.24.3.199
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A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay: Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschild; Ann Pediatr Endocrinol Metab. 2019;24(1):49-54. Published online March 31, 2019; DOI: https://doi.org/10.6065/apem.2019.24.1.49
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Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene: Won Kyoung Cho, Moon-Bae Ahn, Woori Jang, Hyojin Chae, Myungshin Kim, Byung-Kyu Suh; Ann Pediatr Endocrinol Metab. 2018;23(4):235-239. Published online December 31, 2018; DOI: https://doi.org/10.6065/apem.2018.23.4.235
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets: Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2018;23(4):229-234. Published online December 31, 2018; DOI: https://doi.org/10.6065/apem.2018.23.4.229
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Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11: Jong Seo Yoon, Kyu Jung Park, Young Bae Sohn, Hae Sang Lee, Jin Soon Hwang; Ann Pediatr Endocrinol Metab. 2018;23(3):154-157. Published online September 28, 2018; DOI: https://doi.org/10.6065/apem.2018.23.3.154
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism: Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko; Ann Pediatr Endocrinol Metab. 2018;23(2):107-111. Published online June 20, 2018; DOI: https://doi.org/10.6065/apem.2018.23.2.107
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Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders: Maki Fukami, Mami Miyado; Ann Pediatr Endocrinol Metab. 2017;22(2):90-94. Published online June 28, 2017; DOI: https://doi.org/10.6065/apem.2017.22.2.90
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