 |
 |
Case Report
- Page Path
-
- HOME
- ARTICLE CATEGORY
- Case Report
- Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes
-
Ana Gutierrez Alvarez
, Naomi Yachelevich, Brenda Kohn, Preneet Cheema Brar - Ann Pediatr Endocrinol Metab. 2021;26(4):284-289. Published online October 14, 2021
-
Full text 
PubReader 
ePub 
Crossref - TDM 
PDF
- Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
-
Christiaan F. Mooij
, Carline E. Tacke, Mirjam E. van Albada, Winfried Barthlen
, Hennie Bikker, Klaus Mohnike, Matthijs W.N. Oomen, A.S. Paul van Trotsenburg, Nitash Zwaveling-Soonawala - Ann Pediatr Endocrinol Metab. 2021;26(4):278-283. Published online May 7, 2021
-
Full text PubReader ePub Crossref - TDM PDF
- Myhre syndrome: the first case in Korea
-
Dongjin Lim
, Jae Hyun Kim, Jieun Lee - Ann Pediatr Endocrinol Metab. 2021;26(3):210-214. Published online May 12, 2021
-
Full text PubReader ePub Crossref - TDM PDF
- Immobilization-induced symptomatic hypercalcemia treated with zoledronate in a child with a left ventricular assist device
-
Emrah Gün
, Tanıl Kendirli, Edin Botan, Tayfun Uçar, Zehra Aycan, Ahmet Rüçhan Akar - Ann Pediatr Endocrinol Metab. 2021;26(3):205-209. Published online May 12, 2021
-
Full text PubReader ePub Crossref - TDM PDF
- A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
-
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
- Ann Pediatr Endocrinol Metab. 2021;26(2):130-133. Published online June 30, 2021
-
Full text PubReader ePub Crossref - TDM PDF
- Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
-
Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Junghwan Suh, Kyung Chul Song, Jin-Sung Lee, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2021;26(2):126-129. Published online June 30, 2021
-
Full text PubReader ePub Crossref - TDM PDF
- Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
-
Hae In Lee, Ahreum Kwon, Jung Hwan Suh, Han Saem Choi, Kyung Chul Song, Hyun Wook Chae, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2021;26(1):66-70. Published online March 31, 2021
-
Full text PubReader ePub Crossref - TDM PDF
- Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
-
Julie Mouron-Hryciuk
, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard
, Henrik Thybo Christesen, Khalid Hussain
, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild - Ann Pediatr Endocrinol Metab. 2021;26(1):60-65. Published online August 7, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism
-
Jung Hyun Shin, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Hye Young Kim, Young Mi Kim, Mi Hye Bae, Kyung Hee Park, Min Jung Kwak
- Ann Pediatr Endocrinol Metab. 2020;25(4):282-286. Published online December 31, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- Cushing syndrome with acute kidney injury due to ureteral stones in a 6-year-old boy
-
Kyungchul Song, Ahreum Kwon, Junghwan Suh, Han Saem Choi, Hyun Wook Chae, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2020;25(4):277-281. Published online August 7, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature
-
Tae Youp Kim, Kyung Mi Jang, Chang Won Keum, Seung Hwan Oh, Woo Yeong Chung
- Ann Pediatr Endocrinol Metab. 2020;25(4):272-276. Published online July 29, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant
-
Jaewon Choe, Jae Hyun Kim, Young Ah Kim, Jieun Lee
- Ann Pediatr Endocrinol Metab. 2020;25(3):192-197. Published online July 29, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- A case of primary hyperparathyroidism due to an intrathymic ectopic parathyroid adenoma in a 15-year-old boy
-
Youngseok Seo, Kyungchul Song, Han Saem Choi, Junghwan Suh, Ahreum Kwon, Hyun Wook Chae, Ho-Seong Kim
- Ann Pediatr Endocrinol Metab. 2020;25(3):187-191. Published online July 29, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism
-
Su-Jeong Lee, Jung-Eun Moon, Gi-Min Lee, Min-Hyun Cho, Cheol Woo Ko
- Ann Pediatr Endocrinol Metab. 2020;25(2):132-136. Published online June 30, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
-
Hyun Woo Son, Jeong Eun Lee, Seung Hwan Oh, Changwon Keum, Woo Yeong Chung
- Ann Pediatr Endocrinol Metab. 2020;25(2):126-131. Published online June 30, 2020
-
Full text PubReader ePub Crossref - TDM PDF
- Editorial Office
-
501-107, 30 Seocho-daero 74-gil, Seocho-gu, Seoul 06622, Republic of Korea
Tel: +82-2-3471-4268 Fax: +82-2-3471-4269 E-mail: kspe.editor@gmail.com
Copyright © 2023 by Korean Society of Pediatric Endocrinology.
