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Complete trisomy 14 mosaicism: first live-born case in Korea

Hur YJ, Hwang T

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the...
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Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy

Kwon S, Seo HE, Hwang SK

PURPOSE: Although benign rolandic epilepsy (BRE) is a benign condition, it may be associated with a spectrum of behavioral, psychiatric, and cognitive disorders. This study aimed to assess the cognitive...
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Renal scar formation after urinary tract infection in children

Park YS

Urinary tract infection (UTI) is a common bacterial illness in children. Acute pyelonephritis in children may lead to renal scarring with the risk of later hypertension, preeclampsia during pregnancy, proteinuria,...
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Enterovirus infection in Korean children and anti-enteroviral potential candidate agents

Park KS, Choi YJ, Park JS

Although most enterovirus infections are not serious enough to be life threatening, several enteroviruses such as enterovirus 71 are responsible for severe, potentially life-threatening disease. The epidemic patterns of enteroviruses...
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Clinical features and surgical outcomes of complete transposition of the great arteries

Hong SJ, Choi HJ, Kim YH, Hyun MC, Lee SB, Cho JY

PURPOSE: This single-center study aimed to assess the clinical features and surgical approaches and outcomes of complete transposition of the great arteries (TGA). METHODS: TGA patients who had undergone surgical correction...
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Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools

Lee E, Yum MS, Choi HW, Yoo HW, You SJ, Lee EH, Ko TS

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1)...
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Puromycin aminonucleoside modulates p130Cas of podocytes

Ha TS, Choi JY, Park HY

PURPOSE: Puromycin aminonucleoside (PAN) specifically injures podocytes, leading to foot process effacement, actin cytoskeleton disorganization, and abnormal distribution of slit diaphragm proteins. p130Cas is a docking protein connecting F-actin fibers...
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LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls

Park SW, Lee ST, Sohn YB, Cho SY, Kim SH, Kim SJ, Kim CH, Ko AR, Paik KH, Kim JW, Jin DK

PURPOSE: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in...
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