Clinical and Experimental Pediatrics

Author index

Page Path

HOME
BROWSE ARTICLES
Author index

2 Articles

Case Report

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee

Clin Exp Pediatr. 2014;57(5):240-244. Published online May 31, 2014

Crossref 3

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly...

DOI: https://doi.org/10.3345/kjp.2014.57.5.240

A Case of Rett Syndrome with MECP2 Gene Mutation

Jin Kyung Kim, Chang Seok Ki, Jong Won Kim

Clin Exp Pediatr. 2002;45(4):540-544. Published online April 15, 2002

Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by...

MOST CITED ACCEPTED ARTICLES

Cited By 34	Neurodevelopmental outcomes of preterm infants
Cited By 30	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 27	Gut microbiota affects brain development and behavior
Cited By 24	Association of gut microbiota with obesity in children and adolescents
Cited By 24	Nonalcoholic fatty liver disease and insulin resistance in children

+more

Global and regional burden of neonatal disorders (preterm birth, encephalopathy, jaundice, and sepsis), 1990–2021 and projections to 2050

Bifidobacterium animalis subsp. lactis BLa80 for preventing allergic, respiratory, and gastrointestinal diseases in young children in China: a randomized double-blind placebo-controlled trial

Assessing kidney outcomes in childhood-onset lupus nephritis: role of National Institutes of Health-modified histological indices

Telemedicine outcome of mechanically ventilated children in Brazilian pediatric intensive care units

Associations of routine breakfast and napping habits with early adiposity rebound by age 3 years: a populationbased cohort study in Japan

+more

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES

FOR CONTRIBUTORS

ABOUT

Editorial Office: Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306 Fax: +82-2-3473-7307 E-mail: office@e-cep.org

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)