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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
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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
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- Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene
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So Yoon Jung, Jeongho Lee, Dong Hwan Lee
- Ann Pediatr Endocrinol Metab. 2020;25(1):57-62. Published online March 31, 2020
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- Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome
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Yoo-Mi Kim, Yeoun Joo Lee, Soo Yeon Kim, Chong Kun Cheon, Han Hyuk Lim
- Ann Pediatr Endocrinol Metab. 2020;25(1):52-56. Published online March 31, 2020
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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
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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
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- Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature
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Mafalda Cascais
, Ester Pereira, Alexandra Vieira, Margarida Venâncio, Lina Ramos, Pascoal Moleiro - Ann Pediatr Endocrinol Metab. 2019;24(4):262-266. Published online December 31, 2019
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- Two cases of ketosis-prone diabetes mellitus in Korean adolescents
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Won Bin Hwang, Ji Hyun Kim, Sung Min Cho
- Ann Pediatr Endocrinol Metab. 2019;24(4):257-261. Published online December 31, 2019
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- First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
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Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
- Ann Pediatr Endocrinol Metab. 2019;24(4):253-256. Published online December 31, 2019
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Supplementary Material
- A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
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Junghwan Suh, Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Jin-Sung Lee, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2019;24(4):248-252. Published online December 31, 2019
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- Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature
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Sun Kim, Yeong Seok Lee, Dong Hyun Kim, Aram Yang, Tack Lee, Seun Deuk Hwang, Dae Gyu Kwon, Ji Eun Lee
- Ann Pediatr Endocrinol Metab. 2019;24(3):207-211. Published online September 30, 2019
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- A case of treatment-induced neuropathy in an adolescent with type 1 diabetes
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Niranjana Varadharaju
, Dhivyalakshmi Jeevarathnam, Mahalakshmi Rajan, Vinoth Ponnurangam Nagarajan, Saji James - Ann Pediatr Endocrinol Metab. 2019;24(3):203-206. Published online September 30, 2019
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- Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
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Seung Heo, Ja-Hyun Jang, Jeesuk Yu
- Ann Pediatr Endocrinol Metab. 2019;24(3):199-202. Published online September 30, 2019
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- Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female
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Mustafa Tosur
, Monica E. Lopez, David L. Paul - Ann Pediatr Endocrinol Metab. 2019;24(3):195-198. Published online September 30, 2019
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- A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene
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You-Min Kim, Yoon-Young Jang, Ji-Eun Jeong, Hye-Jin Park, Ja-Hyun Jang, Jin-Kyung Kim
- Ann Pediatr Endocrinol Metab. 2019;24(2):137-141. Published online June 30, 2019
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- Thyrotoxic hypokalemic periodic paralysis due to Graves’ disease in 2 adolescents
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Jung Gi Roh, Kyu Jung Park, Hae Sang Lee, Jin Soon Hwang
- Ann Pediatr Endocrinol Metab. 2019;24(2):133-136. Published online June 30, 2019
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- Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?
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Domenico Umberto De Rose
, Alessandro Perri, Francesca Gallini, Francesca Priolo, Eloisa Tiberi, Giovanni Vento, Enrico Zecca - Ann Pediatr Endocrinol Metab. 2019;24(2):129-132. Published online June 30, 2019
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