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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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- A case of immune-mediated type 1 diabetes mellitus due to congenital rubella ınfection
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Hüseyin Anıl Korkmaz
, Çağatay Ermiş - Ann Pediatr Endocrinol Metab. 2019;24(1):68-70. Published online March 31, 2019
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- Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report
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Seok Jin Kang, Rosie Lee, Heung Sik Kim
- Ann Pediatr Endocrinol Metab. 2019;24(1):64-67. Published online March 31, 2019
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- A case of de novo 18p deletion syndrome with panhypopituitarism
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Aram Yang, Jinsup Kim, Sung Yoon Cho, Ji-Eun Lee, Hee-Jin Kim, Dong-Kyu Jin
- Ann Pediatr Endocrinol Metab. 2019;24(1):60-63. Published online March 31, 2019
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Supplementary Material
- Episodes of prolonged “trance-like state” in an infant with hypothalamic hamartoma
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Rakesh Kumar
, Jaivinder Yadav, Jitendra Kumar Sahu, Manjul Tripathi, Chirag Ahuja, Devi Dayal - Ann Pediatr Endocrinol Metab. 2019;24(1):55-59. Published online March 31, 2019
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- A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
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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
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- Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
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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
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- A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
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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
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- Severe recurrent nocturnal hypoglycemia during chemotherapy with 6-mercaptopurine in a child with acute lymphoblastic leukemia
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Eun Mi Cho, Jung Eun Moon, Soo Jung Lee, Cheol Woo Ko
- Ann Pediatr Endocrinol Metab. 2018;23(4):226-228. Published online December 31, 2018
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- Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
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You Jung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Man Jin Kim, Sung Sub Park
- Ann Pediatr Endocrinol Metab. 2018;23(4):220-225. Published online December 31, 2018
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- Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
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Anastasios Serbis
, Vassiliki Regina Tsinopoulou, Konstantina Mouzaki, Eleni P. Kotanidou, Styliani Giza, Assimina Galli-Tsinopoulou - Ann Pediatr Endocrinol Metab. 2018;23(3):162-165. Published online September 28, 2018
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