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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency...
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Usefulness of peritoneal drainage in extremely low birth weight infants with intestinal perforation: a single-center experience

Lee JY, Namgoong J, Kim SC, Kim DY

PURPOSE: Necrotizing enterocolitis and intestinal perforation are the most common surgical emergency in the neonatal intensive care unit. The purpose of this study is to evaluate if peritoneal drainage (PD)...
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The role of antibiotic prophylaxis in mild to moderate isolated hydronephrosis detected in antenatal screening

Rianthavorn P, Phithaklimnuwong S

PURPOSE: To determine whether continuous antibiotic prophylaxis (CAP) could prevent urinary tract infection (UTI) in mild to moderate antenatal isolated hydronephrosis (IH), characterized by hydronephrosis without ureter and bladder abnormalities,...
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Relationship between Breastfeeding, Birth History, and Acute Pyelonephritis in Infants

Lee YJ, Kim KM, Jung HL, Shim JY, Kim DS, Shim JW

BACKGROUND: Although the clinical importance of the immunological benefits of breastfeeding has been emphasized for decades, their direct relationship with acute pyelonephritis (APN) is still not clear. Our goal was...
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Prenatal diagnosis of harlequin ichthyosis: a case report

Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused...
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Eye Movements and Vestibulo-Ocular Reflex in Periventricular Leukomalacia

Kim SH, Kim JS

No abstract available.
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Cognitive Outcomes of Children with Very Low Birth Weight at 3 to 5 Years of Age

Kim HS, Kim EK, Park HK, Ahn DH, Kim MJ, Lee HJ

BACKGROUND: The cognitive consequences and risk factors based long-term outcome of very-low-birth-weight (VLBW; < 1,500 g) infants in Korea has not been studied. The aim of this study was to...
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Experience of a Single Center in Treating Multiple Manifestations of Tuberous Sclerosis Complex with Everolimus

Ahn H, Yum MS, Jang HN, Song C, Ko TS

PURPOSE: The aim of this study was to evaluate the efficacy and tolerability of everolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, for the treatment of tuberous sclerosis complex...
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Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study

Kim D, Kim HJ, You SJ, Yum MS, Ko TS

PURPOSE: Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC,...
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A Case of Hemolytic Disease of Newborn due to Anti-Di(a): Consideration of the Inclusion of Di(a) Antigen in Antibody Screening Test

Kim HS, Jo CK, Kim SY, Kim KH, Kim MJ

The Diego blood group is expressed as the Di(a) antigen and Di(b) antigen, and the frequency of the Di(a) antigen among the Korean population is estimated to be 9.4~14.5%. We...
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A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier...
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A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim J, Ko JM, Shin SH, Kim EK, Kim HS

Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is...
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The Need for Early Screening for Iron Deficiency Anemia in 9- to 12-Month-Old Infants

Cho YH, Kim SY, Yi DY, Yun SW, Chae SA, Yi DY, Lim IS, Lee NM

PURPOSE: Growth and development of infants can be periodically assessed through health screening, but iron deficiency anemia, which is common in infants, is difficult to detect by conducting only infant...
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Identification of proteins differentially expressed by glutamate treatment in cerebral cortex of neonatal rats

Kang JB, Park DJ, Koh PO

Glutamate leads to neuronal cell damage by generating neurotoxicity during brain development. The objective of this study is to identify proteins that differently expressed by glutamate treatment in neonatal cerebral...
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Practical considerations when administering surfactants to preterm infants with respiratory distress syndrome

Jo HS

No abstract available.
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Follow-up of infants with congenital hypothyroidism and low total thyroxine/thyroid stimulating hormone on newborn screen

McCormick , Pitts L, Hughes Z

PURPOSE: Newborn screening (NBS) methods to detect congenital hypothyroidism (CH) vary regarding whether total thyroxine (T4), thyroid stimulating hormone (TSH), or both are measured. Neonates with low T4 and normal...
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Korean reference for full-term birth length by sex: data from the 4th Korean National Health and Nutrition Examination Survey (KNHANES-IV; 2007–2009)

Kim JH, Lee JA, Kim DH, Lim JS

PURPOSE: The purpose of this study was to construct reference data for birth length of full-term and preterm Korean infants by sex and to define a sex-specific birth length cut-off...
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Serious Necrotizing Enterocolitis in a Neonate Treated with Octreotide for Congenital Chylothorax

Jo MJ, Kim DH, Kim HS

The somatostatin analog octreotide has recently been introduced in the treatment of infants with chylothorax. The safety profile of octreotide has not been fully evaluated. Octreotide reduces the splanchnic blood...
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Fetal Ultrasonography for Prenatal Detection of Tuberous Sclerosis Associated with Cardiac Rhabdomyoma

Kang MJ, Hong SY, Kwon BY, Jeong JE, Bae JY

Cardiac rhabdomyoma is common cardiac mass found during the fetal period. Cardiac rhabdomyoma and tuberous sclerosis have significant associations. Tuberous sclerosis in newborns can cause disability in nearly all organs....
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Two Cases of Herlyn-Werner-Wunderlich Syndrome in Neonates and Adolescents with Hydrocolpos and Hematocolpometra

Park M, Jeon GH

The Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly that is characterized by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. It is often diagnosed in patient...
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