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Isolated 3-Methylcrotonyl CoA Carboxylase Deficiency Detected by Newborn Screening Program Using Tandem Mass Spectrometry

Kwak JY, Park JY, Nam KA, Son SH, Seo SS

  • KMID: 2278634
  • Korean J Pediatr.
  • 2005 May;48(5):561-564.
Isolated deficiency of 3-methylcrotonyl CoA carboxylase is a rare disorder of the catabolic pathway for leucine and many patients have mild symptoms or no symptom. However, the introduction of tandem...
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A Case of Maple Syrup Urine Disease detected by Tandem Mass Spectrometry in Newborn Screening Test

O CG, Jung YS, Yoo BH, Lee DK, Lim IS

  • KMID: 2188691
  • J Korean Soc Neonatol.
  • 2003 May;10(1):88-93.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder. Impaired activity of the branched-chain 2-oxo acid dehydrogenase complex causes accumulation of branched-chain L-amino and 2-oxo acid that can exert...
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Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

Yoon HR

The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing...
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Sporozoite proteome analysis of Cryptosporidium parvum by one-dimensional SDS-PAGE and liquid chromatography tandem mass spectrometry

Siddiki AM

Despite the development of new technologies, new challenges still remain for large scale proteomic profiling when dealing with complex biological mixtures. Fractionation prior to liquid chromatography tandem mass spectrometry (LC-MS/MS)...
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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...
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Metabolism and excretion of novel pulmonary-targeting docetaxel liposome in rabbits

Wang J, Zhang L, Wang L, Liu Z, Yu Y

Our study aims to determine the metabolism and excretion of novel pulmonary-targeting docetaxel liposome (DTX-LP) using the in vitro and in vivo animal experimental models. The metabolism and excretion of...
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Annual Report on External Quality Assessment in Metabolic Disorders in Korea (2008)

Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY

  • KMID: 2200581
  • J Lab Med Qual Assur.
  • 2009 Jun;31(1):143-159.
Two trials of external quality assessment for the newborn screening tests of inborn errors of metabolism including PKU screening, TSH, T4 (total/free), galactosemia screen, maple syrup urine disease screen and...
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Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry

Song SM, Yoon HR, Lee A, Lee KR

  • KMID: 2184443
  • J Genet Med.
  • 2008 Jun;5(1):21-25.
PURPOSE: In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began...
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Simultaneous Screening of 177 Drugs of Abuse in Urine Using Ultra-performance Liquid Chromatography with Tandem Mass Spectrometry in Drug-intoxicated Patients

Lee YW

  • KMID: 2171150
  • Clin Psychopharmacol Neurosci.
  • 2013 Dec;11(3):158-164.
OBJECTIVE: The demand for rapid and broad clinical toxicology screening methods to identify drugs of abuse and medicinal drugs is increasing steadily. Liquid chromatography-tandem mass spectrometry (LC-TMS) is increasingly used...
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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...
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A Case of Asymptomatic 3-methylcrotonylglycinuria Detected by Tandem Mass Spectrometry in Newborn Screening

Kim JK

  • KMID: 1875820
  • Korean J Pediatr.
  • 2004 Aug;47(8):912-916.
3-Methylcrotonylglycinuria is an autosomal recessive inborn error of leucine catabolism that results from the deficiency of 3-methylcrotonyl-CoA carboxylase(3-MCC). In 3-MCC deficiency 3-methylcrotonyl-CoA, may form glycine and carnitine conjugates. The primary...
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Identification of Novel Metabolic Proteins Released by Insulin Signaling of the Rat Hypothalmus Using Liquid Chromatography-Mass Spectrometry (LC-MS)

Chin C

OBJECTIVE: The brain is dependent on glucose as an energy source. Intricate homeostatic mechanisms have been implicated in maintaining the blood glucose concentration in the brain. The aim of this...
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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...
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Vitamin D Levels and Prevalence of Vitamin D Deficiency Associated with Sex, Age, Region, and Season in Koreans

Nah EH, Kim S, Cho HI

BACKGROUND: Although many studies on vitamin D have been conducted, they have not been consistent regarding the method of measurement, the individuals investigated, and the season of blood sampling. Thus,...
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Efficacy of the Measurement of 25-Hydroxyvitamin D2 and D3 Levels by Using PerkinElmer Liquid Chromatography-Tandem Mass Spectrometry Vitamin D Kit Compared With DiaSorin Radioimmunoassay Kit and Elecsys Vitamin D Total Assay

Kwak HS, Chung HJ, Cho DH, Park MH, Ku ES, Park EJ, Oh HJ

No abstract available.
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Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2005)

Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY

  • KMID: 2200712
  • J Lab Med Qual Assur.
  • 2006 Jun;28(1):135-152.
The trial of external quality assessment for inborn error of metabolism was performed in 2005. Total 11 specimens for the conventional newborn screening tests were distributed to 47 laboratories. The...
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Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2004)

Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY

  • KMID: 1584041
  • J Lab Med Qual Assur.
  • 2005 Jun;27(1):125-140.
The trial of external quality assessment for inborn error of metabolism was performed twice in 2004. Total 10 specimens for the conventional newborn screening tests were distributed to 43 laboratories....
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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)...
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Annual Report on External Quality Assessment in Metabolic Disorders in Korea (2009)

Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY

  • KMID: 2200553
  • J Lab Med Qual Assur.
  • 2010 Jun;32(1):131-146.
Two trials of external quality assessment for conventional newborn screening tests for phenylketonuria, congenital hypothyroidism, galactosemia, maple syrup urine disease and homocytinuria and for the newborn screening tests using tandem...
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Possible Roles of LAMMER Kinase Lkh1 in Fission Yeast by Comparative Proteome Analysis

Cho SJ, Kim YH, Park HM, Shin KS

  • KMID: 2312575
  • Mycobiology.
  • 2010 Jun;38(2):108-112.
To investigate the possible roles of LAMMER kinase homologue, Lkh1, in Schizosaccharomyces pombe, whole proteins were extracted from wild type and lkh1-deletion mutant cells and subjected to polyacrylamide gel electrophoresis....
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