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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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A case of immune-mediated type 1 diabetes mellitus due to congenital rubella ınfection
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
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
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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Episodes of prolonged “trance-like state” in an infant with hypothalamic hamartoma
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
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
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
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
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
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
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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Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
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
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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