Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

94 results
Display

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates

Lee H, Lim J, Shin JE, Eun HS, Park MS, Park KI, Namgung R, Lee JS

PURPOSE: Newborn screening (NBS) programs are important for appropriate management of susceptible neonates to prevent serious clinical problems. Neonates admitted to neonatal intensive care units (NICU) are at a potentially...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Analysis of Major Factors Affecting False Positive Results in Neonatal Screening Test within 3 Days after Birth

Kim TK, Lee SH, Yu ST, Oh YK

OBJECTIVE: We examined the factors affecting the false positive results in the accidental neonatal screening test (NST) within 3 days after birth and tried to find out the most relevant...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Dried Blood Spot Multiplexed Steroid Profiling Using Liquid Chromatography Tandem Mass Spectrometry in Korean Neonates

Choi R, Park HD, Oh HJ, Lee K, Song J, Lee SY

BACKGROUND: Screening for congenital adrenal hyperplasia (CAH) using immunoassays for 17α-hydroxyprogesterone generates many false-positive results. We developed and validated a liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay for simultaneous quantification of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Quantification of apixaban in human plasma using ultra performance liquid chromatography coupled with tandem mass spectrometry

Jeong HC, Kim TE, Shin KH

Apixaban, an inhibitor of direct factor Xa, is used for the treatment of venous thromboembolic events or prevention of stroke. Unlike many other anticoagulant agents, it does not need periodic...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Measurement of Succinylacetone Using HPLC-Tandem Mass Spectrometry and Establishment of a Cut-off Value

Jun SH, Seo JD, Lee K, Song J

BACKGROUND: Newborn screening of tyrosinemia type 1 is important for identifying infants at risk for developing this disease before life-threatening symptoms occur. It is difficult to differentiate between tyrosinemia type...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Report on the External Quality Assessment Scheme for Metabolite Testing in Korea (2016–2017)

Lee SY

External quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as extended newborn screening...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
IgE Cross-Reactivity between Humulus japonicus and Humulus lupulus

Jeong KY, Lee J, Mistrello , Park KH, Park JW

PURPOSE: Japanese hop (Humulus japonicus) is a major cause of weed pollinosis in East Asia. However, supplies of commercial allergen extract from this plant have not met clinical demand. The...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Clinical Manifestations, Gene Analysis of Patients with 3-Methylcrotonyl-CoA Carboxylase Deficiency

Lee H, Lee B, Jung SY, Lee J, Hong YH, Lee DH

OBJECTIVE: 3-Methylcrotonyl CoA carboxylase deficiency (3MCCD) is classified as organic acid disease due to leucine catabolism. It is among the most common inborn errors of metabolism identified on newborn screening...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Analysis of protein expression in Brucella abortus mutants with different growth rates by two-dimensional gel electrophoresis and LC-MS/MS peptide analysis

Park WB, Im YB, Shim S, Yoo HS

Brucella abortus is a bacterium that causes brucellosis and is the causative agent of worldwide zoonoses. Pathogenesis of the B. abortus infection is complicated, and several researchers have attempted to...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Development and validation of analytical method for the determination of radotinib in human plasma using liquid chromatography-tandem mass spectrometry

Seo HB, Cho S, Yoon YR, Yim DS

This study describes the development of an analytical method to determine radotinib levels in human plasma using high performance liquid chromatography (HPLC) coupled with triple quadrupole tandem mass spectrometry (MS/MS)...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Evaluation of the Triage TOX Drug Screen Assay for Detection of 11 Drugs of Abuse and Therapeutic Drugs

Bang HI, Jang MA, Lee YW

The demand for rapid and broad clinical toxicology screens is on the rise. Recently, a new rapid toxicology screening test, the Triage TOX Drug Screen (Alere Inc., USA), which can...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Relationship between dexmedetomidine dose and plasma dexmedetomidine concentration in critically ill infants: a prospective observational cohort study

Fujita Y, Inoue K, Sakamoto T, Yoshizawa , Tomita M, Toyo'oka T, Sobue K

BACKGROUND: Dexmedetomidine is a highly selective central α₂-agonist used as a sedative in pediatric intensive care unit (PICU). However, little is known about the relationship between dexmedetomidine dose and its...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Quantitative Analysis of Eleven Bioactive Constituents of a Traditional Herbal Medicine, Yeonggyechulgam-tang using, Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry

Seo CS, Shin HK

This study proposes a sensitive and selective liquid chromatography-electrospray ionization tandem mass spectrometry method of efficiently assessing the quality of a traditional herbal medicine called Yeonggyechulgam-tang (YGCGT). The following compounds...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Determination of sumatriptan in human plasma using liquid chromatography-mass spectrometry for pharmacokinetic study in healthy Korean volunteers

Cho S, Jegal M, Ohk B, Kim BK, Gwon MR, Kang WY, Seong SJ, Kim HJ, Lee HW, Yoon YR

This study describes the development of an analytical method to determine sumatriptan levels in human plasma using high performance liquid chromatography (HPLC) coupled with triple quadrupole tandem mass spectrometry (MS/MS)...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Effects of CYP2C19 Genetic Polymorphisms on PK/PD Responses of Omeprazole in Korean Healthy Volunteers

Park S, Hyun YJ, Kim YR, Lee JH, Ryu S, Kim JM, Oh WY, Na HS, Lee JG, Seo DW, Hwang IY, Park Z, Jang IJ, Oh J, Choi SE

The aim of this study was to examine the effects of CYP2C19*2 and *3 genetic polymorphisms on omeprazole pharmacokinetic (PK) and pharmacodynamic (PD) responses. Twenty-four healthy Korean volunteers were enrolled...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Current State and Prospects of Development of Blood-based Biomarkers for Mild Traumatic Brain Injury

Lee HH, Lee WH, Seo HG, Han D, Kim Y, Oh BM

The current understanding of the pathophysiology of mild traumatic brain injury (mTBI) is, without doubt, incomplete. Nevertheless, we tried to summarize the state-of-the-art explanation of how the brain is continuously...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations

Choi R, Jeong BH, Koh WJ, Lee SY

Although tuberculosis is largely a curable disease, it remains a major cause of morbidity and mortality worldwide. Although the standard 6-month treatment regimen is highly effective for drug-susceptible tuberculosis, the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Clinical Utility of Measurement of Vitamin D-Binding Protein and Calculation of Bioavailable Vitamin D in Assessment of Vitamin D Status

Kim HJ, Ji M, Song J, Moon HW, Hur M, Yun YM

BACKGROUND: The associations of vitamin D deficiency with various clinical conditions highlighted the importance of vitamin D testing. Currently, clinicians measure only the total 25-hydroxyvitamin D [25(OH)D] concentration, regardless of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2022 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr