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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
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Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene
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
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
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
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
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)
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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A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
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
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
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
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
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
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
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?
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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