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From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene

Yoo S, Lee J, Kim M, Yoon JY, Cheon CK

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case...
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Adult Phenylketonuria with Leukoencephalopathy

Kim M, Woo K, Cheon CK, Jung NY, Lee JH

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Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

Lee Y, Choi JH, Oh A, Kim GH, Park SH, Moon JE, Ko CW, Cheon CK, Yoo HW

Purpose: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is...
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Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome

Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH

Prader-Willi syndrome (PWS), an imprinting disorder, results from the loss of expression of a paternal gene on chromosome 15q11-q13. Progressive obesity and its associated complications lead to increased morbidity and...
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Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

Cheon CK

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Evaluation and management of amenorrhea related to congenital sex hormonal disorders

Yoon JY, Cheon CK

Primary amenorrhea is a symptom with a substantial list of underlying etiologies which presents in adolescence, although some conditions are diagnosed in childhood. Primary amenorrhea is defined as not having...
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A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

Kim YA, Kim SH, Cheon CK, Kim YM

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene,...
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Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Kim YM, Cheon CK, Lim HH, Yoo HW

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also...
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Genetic overgrowth syndrome: A single center's experience

Cheon CK, Kim YM, Yoon JY, Kim YA

PURPOSE: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were...
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Understanding of type 1 diabetes mellitus: what we know and where we go

Cheon CK

The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents is increasing worldwide. Combined effects of genetic and environmental factors cause T1DM, which make it difficult to predict...
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Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

Kim YA, Kim JY, Kim YM, Cheon CK

Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal...
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The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation

Kim YA, Kim YM, Lee YJ, Cheon CK

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a...
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Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated

Cheon CK

No abstract available.
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A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

Song JY, Mun SJ, Sung SK, Hwang JY, Baik SK, Kim JY, Cheon CK, Kim SY, Kim YM

Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs), is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain,...
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Ocular Findings in Mucolipidosis Type II

Suh SY, Cheon CK, Jung JH

PURPOSE: To report ocular findings of a mucolipidosis type II patient with novel mutation. CASE SUMMARY: A 10-year-old boy visited our pediatric genetic metabolic clinic for evaluation of his overall developmental...
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Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

Cheon CK

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be...
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Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam

Lee JH, Kim YM, Kwak MJ, Kim SY, Kim HJ, Cheon CK, Chung WY, Choi IJ, Hong SY, Chueh HW, Yoo JH

PURPOSE: This study investigated the incidence trends and associated factors of type 1 (T1DM) and type 2 diabetes mellitus (T2DM) in children and adolescents under 15 years of age in...
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Kabuki syndrome: clinical and molecular characteristics

Cheon CK, Ko JM

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies,...
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The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation

Cheon CK, Kim GH, Yoo HW

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by...
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A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11...
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