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A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

Ahn JY, Kim SY, Lim BC, Kim KJ, Chae JH

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic...
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MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome

Hong KT, Lim BC, Moon JS, Ko JS

Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. MPV17 is a mitochondrial membrane protein whose mutation causes mitochondrial deoxynucleotide insufficiency. MPV17-related hepatocerebral...
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Short Course and Early Switch of Vigabatrin for Infantile spasms

Ryu HW, Kim H, Lim BC, Hwang H, Chae JH, Choi JE, Kim KJ

Purpose: Vigabatrin has proven efficacy in the treatment of infantile spasms, but it carries the risk of irreversible visual field constriction. The incidence of vigabatrin-induced visual field constriction seems to...
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Clinical Spectrum of Myelin Oligodendrocyte Glycoprotein-Immunoglobulin G-Associated Disease in Korean Children

Yoo IH, Kim W, Shim Y, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim Y, Hyun JW, Kim SH, Choi K, Kim HJ, Chae JH

Background and Purpose: The myelin oligodendrocyte glycoprotein (MOG) antibody is detected at a high rate in childhood acquired demyelinating syndrome (ADS). This study aimed to determine the diagnostic value of...
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Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy

Jeon MJ, Park SG, Kim MJ, Lim BC, Kim KJ, Chae JH, Kim SY

The Shprintzen–Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI . SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is...
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Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

Cho A, Kim SY, Lee JS, Lim BC, Kim H, Hwang H, Chae JH

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and...
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Deep Phenotyping in 1p36 Deletion Syndrome

Shim Y, Go YJ, Kim SY, Kim H, Hwang H, Choi J, Lim BC, Kim KJ, Chae JH

Purpose: Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to...
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The Efficacy and Safety of Rituximab for the Treatment of Pediatric Autoimmune Neuroinflammatory Disorders at a Single Center

Ko YJ, Shim YK, Kim WJ, Kim SY, Kim H, Hwang H, Chae JH, Choi JE, Kim KJ, Lim BC

Purpose: Rituximab is increasingly used as a second-line treatment of neuroinflammatory disorders to improve clinical outcomes in cases refractory to conventional immunotherapy and to reduce relapses. This study aimed to...
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Erratum to: Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children

Yoo IH, Kim W, Cho J, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ

Unfortunately, the authors confirmed that some of the data was missing from categories ‘Acute gastroenteritis’ and ‘Febrile seizure’ of Table 2 in the original version.
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Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC

BACKGROUND AND PURPOSE: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet...
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A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome

Lee JS, Lim BC, Kim KJ, Kim SK, Kim OH, Kim JG, Park SG, Cho TJ, Chae JH

No abstract available.
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Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
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Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
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A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD...
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Clinical and genetic characteristics of Korean patients with IARS2-related disorders

Lee JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Choi M, Seong MW, Chae JH

PURPOSE: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first...
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Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

Kim H, Lee JS, Lee Y, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age....
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Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Kim EY, Shin JS

BACKGROUND AND PURPOSE: Febrile seizure (FS) is a unique type of seizure that only occurs during childhood. Genelized epilepsy with febrile seizure plus (GEFS+) is a familial epilepsy syndrome associated...
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Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children

Yoo IH, Kim W, Cho J, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ

BACKGROUND AND PURPOSE: To identify whether serum uric acid levels are significantly higher in patients with benign convulsion associated with mild gastroenteritis (CwG) than in patients with acute gastroenteritis. METHODS: This...
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Antiepileptic Drug Withdrawal after Surgery in Children with Focal Cortical Dysplasia: Seizure Recurrence and Its Predictors

Choi SA, Kim SY, Kim WJ, Shim YK, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ

BACKGROUND AND PURPOSE: This study investigated the seizure recurrence rate and potential predictors of seizure recurrence following antiepileptic drug (AED) withdrawal after resective epilepsy surgery in children with focal cortical...
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Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability

Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, Choi YM, Jun JK, Lim BC, Chae JH

BACKGROUND: Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability....
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