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- Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
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Hamza Nasir
, Syed Ibaad Ali
, Naeem Haque, Stefan K. Grebe, Salman Kirmani - Ann Pediatr Endocrinol Metab. 2018;23(3):158-161. Published online September 28, 2018
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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
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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
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- De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
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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
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- Respiratory failure in a diabetic ketoacidosis patient with severe hypophosphatemia
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Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Junghwan Suh, Duk Hee Kim, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2018;23(2):103-106. Published online June 20, 2018
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- Association Kikuchi disease with Hashimoto thyroiditis: a case report and literature review
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Eun Joo Lee, Hae Sang Lee, Jun Eun Park, Jin Soon Hwang
- Ann Pediatr Endocrinol Metab. 2018;23(2):99-102. Published online June 20, 2018
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- Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report
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Dai Jung, Go Hun Seo, Yoon-Myung Kim, Jin-Ho Choi, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2018;23(1):51-55. Published online March 22, 2018
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- Congenital hyperinsulinism: diagnostic and management challenges in a developing country – case report
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Cheri Mathews John
, Prakash Agarwal, Suriyakumar Govindarajulu, Sandhya Sundaram, Senthil Senniappan
- Ann Pediatr Endocrinol Metab. 2017;22(4):272-275. Published online December 31, 2017
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- A boy with 46,X,+mar presenting gynecomastia and short stature
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Ki Eun Kim, Ye Jin Kim, Mo Kyoung Jung, Hyun-Wook Chae, Ah Reum Kwon, Woo Jung Lee, Duk-Hee Kim, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2017;22(4):266-271. Published online December 31, 2017
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- Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency
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Kyung Mi Jang, Cheol Woo Ko
- Ann Pediatr Endocrinol Metab. 2017;22(3):208-212. Published online September 28, 2017
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- An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
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Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
- Ann Pediatr Endocrinol Metab. 2017;22(3):203-207. Published online September 28, 2017
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- A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture
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Ji-Yeon Song, Sue-Jean Mun, Soon-Ki Sung, Jae-Yeon Hwang, Seung-Kug Baik, Jee Yeon Kim, Chong-Kun Cheon, Su-Young Kim, Yoo-Mi Kim
- Ann Pediatr Endocrinol Metab. 2017;22(3):197-202. Published online September 28, 2017
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- Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus
- Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo
- Ann Pediatr Endocrinol Metab. 2017;22(2):133-138. Published online June 28, 2017
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- 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
- Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
- Ann Pediatr Endocrinol Metab. 2017;22(2):129-132. Published online June 28, 2017
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- Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome
- Jo Eun Jung, Jin Ho Hur, Mo Kyung Jung, Ahreum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2017;22(2):125-128. Published online June 28, 2017
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- A 1-month-old infant with chylomicronemia due to
GPIHBP1 gene mutation treated by plasmapheresis - Mo Kyung Jung, Juhyun Jin, Hyun Ok Kim, Ahreum Kwon, Hyun Wook Chae, Seok Jin Kang, Duk Hee Kim, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2017;22(1):68-71. Published online March 31, 2017
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