Home
E-Submission
Sitemap
Contact Us
HOME
ABOUT
Aims and Scope
About the Journal
Editorial Board
Principles of Transparency and Best Practice
Open Access
Subscription Information
Contact us
ARTICLE CATEGORY
Original Article
Review Article
Case Report
Others
Browse all articles >
BROWSE ARTICLES
New Issue
All Issues
Accepted
Ahead-of Print
Most View
Most Download
Most Cited
Funded Articles
Ann Pediatr Endocrinol Metab Search
Author Index
AUTHOR INFORMATION
Instructions for Authors
Research and Publication Ethics
Readership
Advertising policies
Article-processing Charge
Author’s Checklist
E-Submission
Copyright Transfer Agreement
Search
Ann Pediatr Endocrinol Metab Search
CLOSE
Case Report
Page Path
HOME
ARTICLE CATEGORY
Case Report
Article Category
Original Article (489)
Review Article (146)
Case Report (254)
Others (102)
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
DOI:
https://doi.org/10.6065/apem.2020.25.1.63
Cited By 2
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2020.25.1.57
Cited By 2
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2020.25.1.52
Cited By 20
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2020.25.1.46
Cited By 1
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.4.262
Cited By 3
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.4.257
Cited By 1
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.4.253
Cited By 2
Full text
PubReader
ePub
Crossref - TDM
PDF
Supplementary Material
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
DOI:
https://doi.org/10.6065/apem.2019.24.4.248
Cited By 3
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.3.207
Cited By 3
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.3.203
Cited By 4
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.3.199
Cited By 8
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.3.195
Cited By 4
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.2.137
Cited By 4
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.2.133
Cited By 8
Full text
PubReader
ePub
Crossref - TDM
PDF
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
DOI:
https://doi.org/10.6065/apem.2019.24.2.129
Full text
PubReader
ePub
Crossref - TDM
PDF
1
2
3
4
5
6
7
8
9
10
Journal Impact Factor 2.2
ABOUT
Aims and Scope
About the Journal
Editorial Board
Principles of Transparency and Best Practice
Open Access
Subscription Information
Contact us
ARTICLE CATEGORY
Original Article
Review Article
Case Report
Others
Browse all articles >
BROWSE ARTICLES
New Issue
All Issues
Accepted
Ahead-of Print
Most View
Most Download
Most Cited
Funded Articles
Ann Pediatr Endocrinol Metab Search
Author Index
AUTHOR INFORMATION
Instructions for Authors
Research and Publication Ethics
Readership
Advertising policies
Article-processing Charge
Author’s Checklist
E-Submission
Copyright Transfer Agreement