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Endocrinology

Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome

Young-Lim Shin

Clin Exp Pediatr. 2019;62(11):412-413. Published online July 9, 2019

Crossref 1

DOI: https://doi.org/10.3345/kjp.2019.00220

Case Report

Fanconi-Bickel Syndrome Presented with Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene

You-Jeong Kim, Sun-Hee Rim, Young-Lim Shin, Han-Wook Yoo

Clin Exp Pediatr. 2001;44(10):1201-1205. Published online October 15, 2001

Fanconi-Bickel syndrome is a rare autosomal recessive disorder of the carbohydrate metabolism recently demonstrated to be caused by mutations in GLUT2, the gene for the glucose transporter protein 2 expressed in the liver, pancreatic β islet-cells, intestine and kidney. Typical clinical and laboratory findings of Fanconi-Bickel syndrome are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a...

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Differences in immune cells and gene expression in human milk by parity on integrated scRNA sequencing

Effect of high-frequency oscillatory ventilation with intermittent sigh breaths on carbon dioxide levels in neonates

Value of transabdominal ultrasonography for diagnosing functional constipation in children: a systematic review and meta-analysis

Prevalence of childhood overweight and obesity in Malaysia: a systematic review and meta-analysis

Characteristics of temper tantrums in 1–6-year-old children and impact on caregivers

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Editorial Office: Korean Pediatric Society
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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/)