Clinical and Experimental Pediatrics

Original Article

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2012;55(2):48-53. Published online February 14, 2012

Purpose

Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population.

Methods

Clinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease.

Results

Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type,...

DOI: https://doi.org/10.3345/kjp.2012.55.2.48

The Clinical Characteristics and Gene Analysis of Korean Gaucher Disease with Central Nervous System Involvement

Hoi Seok Choi, Sung Hwan Kim, Hiroyuki Ida, Hyun Ju Kim

Clin Exp Pediatr. 2000;43(5):611-618. Published online May 15, 2000

Purpose : We performed the study to determine the clinical characteristics and natural history of Gaucher disease with CNS involvement in Korea as well as to determine whether gene analysis would be helpful in the identification of neuronopathic Gaucher disease. Methods : We described the initial symptom, clinical manifestations, age of onset, clinical neurophysiologic findings and brain MRI findings from the...

PDF

Case Report

A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement

Jae-Bok Kim, Han-Wook Yoo

Clin Exp Pediatr. 1998;41(11):1590-1595. Published online November 15, 1998

Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in the macrophage and leads to hepatosplenomegaly, pancytopenia, bone damage and sometimes can be fatal. Recently, enzyme replacement has been considered as a major therapeutic strategy and about 2,000 patients have...

PDF

Original Article

Two cases of Gaucher disease in brother and sister.

Yong Ju Kim, Ki Young Cheong, Jong Jin Seo, Keon Su Rhee, Young Hun Chung, Seon Hoe Koo

Clin Exp Pediatr. 1991;34(8):1151-1156. Published online August 31, 1991

We experienced two cases of Gaucher disease in brother and sister. The first case of 6 year old female showed hepatosplenomegaly with thrombocytopenia and characteristic Gaucher cells in bone marrow aspiration and biopsy. She is alive without complaints except abdominal distension. The second case of 3 year ~ 7 month old male showed hepatosplenomegaly with anemia and throm- bocytopenia. There were characteristic Gaucher cells...

PDF

Cited By 18	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 17	Neurodevelopmental outcomes of preterm infants
Cited By 14	Gut microbiota affects brain development and behavior
Cited By 13	Association of gut microbiota with obesity in children and adolescents
Cited By 12	Korean Developmental Screening Test for Infants and Children (K-DST): development, applications, and implications for future early childhood development interventions

Search