Clinical and Experimental Pediatrics

Author index

Page Path

HOME
BROWSE ARTICLES
Author index

1 Article

Original Article

Identification of Novel Mutations and Three Most Common Mutations in the Human ATP7B Gene of Korean Patients with Wilson Disease

Han-Wook Yoo, Gu-Hwan Kim, Ji-Won Chung, Chang-Yeon Lee, Kyung-Mo Kim

Clin Exp Pediatr. 2001;44(5):569-576. Published online May 15, 2001

Purpose : Wilson disease is an autosomal recessive disorder of copper transport, which is probably the most common inherited metabolic disorder in Korea. It is characterized by defective biliary excretion of copper and impairment in the corporation of copper into ceruloplasmin. In Wilson disease, synthesis of a defective copper transporting enzyme leads to the accumulation of copper in the liver, brain and kidney. The...

MOST CITED ACCEPTED ARTICLES

Cited By 21	Neurodevelopmental outcomes of preterm infants
Cited By 20	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 17	Association of gut microbiota with obesity in children and adolescents
Cited By 17	Nonalcoholic fatty liver disease and insulin resistance in children
Cited By 16	Prevalence of anxiety, depression, and stress among parents of neonates admitted to neonatal intensive care unit: a systematic review and meta-analysis

+more

Intermittent sigh breaths during high-frequency oscillatory ventilation among newborn infants

COVID-19 vaccine hesitancy among parents of children with systemic lupus erythematosus: a comment

Cost-effectiveness of newborn screening for severe combined immunodeficiency: a systematic review

Treatment and clinical outcomes of pediatric autoimmune hemolytic anemia: real-world single-center data from Korea

Factors associated with thiamin deficiency in pediatric patients with heart disease and receiving diuretics: a single-center study

+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/)