- Analysis of the Stability of Urea in Dried Blood Spots Collected and Stored on Filter Paper
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Quraishi R, Lakshmy R, Mukhopadhyay AK, Jailkhani
- KMID: 1781324
- Ann Lab Med.
- 2013 May;33(3):190-192.
- doi: 10.3343/alm.2013.33.3.190
The ability to use dry blood spots (DBSs) on filter paper for the analysis of urea levels could be an important diagnostic tool for areas that have limited access to... -
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- Multiplex Assay of Second-Line Anti-Tuberculosis Drugs in Dried Blood Spots Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry
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Lee K, Jun SH, Han M, Song SH, Park JS, Lee JH, Park KU, Song J
- KMID: 2373581
- Ann Lab Med.
- 2016 Sep;36(5):489-493.
- doi: 10.3343/alm.2016.36.5.489
As dried blood spots (DBSs) have various advantages over conventional venous blood sampling, some assays for detection of one or two anti-tuberculosis (TB) drugs in DBSs have been developed. However,... -
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- Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry
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Legnini E, Orsini JJ, Muhl A, Johnson B, Dajnoki A, Bodamer OA
- KMID: 1387345
- Ann Lab Med.
- 2012 Sep;32(5):319-323.
- doi: 10.3343/alm.2012.32.5.319
BACKGROUND: Niemann Pick disease (NP) is a rare, lysosomal storage disorder due to deficiency of the intra-lysosomal enzyme acid sphingomyelinase (ASM) resulting in intracellular accumulation of sphingomyelin. We evaluated a... -
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- Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
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Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien YH, Marodi L, Hwu WL, Bodamer OA
- KMID: 1707235
- Ann Lab Med.
- 2013 Jul;33(4):274-278.
- doi: 10.3343/alm.2013.33.4.274
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be... -
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- Dried Blood Spot Testing for Seven Steroids Using Liquid Chromatography-Tandem Mass Spectrometry With Reference Interval Determination in the Korean Population
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Kim B, Lee MN, Park HD, Kim JW, Chang YS, Park WS, Lee SY
- KMID: 2363260
- Ann Lab Med.
- 2015 Nov;35(6):578-585.
- doi: 10.3343/alm.2015.35.6.578
BACKGROUND: Conventional screening for congenital adrenal hyperplasia (CAH) using immunoassays generates a large number of false-positive results. A more specific liquid chromatography-tandem mass spectrometry (LC-MS/MS) method has been introduced to... -
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- Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population
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Han M, Jun SH, Song SH, Park KU, Kim JQ, Song J
- KMID: 1781688
- Korean J Lab Med.
- 2011 Oct;31(4):250-256.
- doi: 10.3343/kjlm.2011.31.4.250
BACKGROUND: We evaluated the performance of multiplex tandem mass spectrometry (MS/MS) in newborn screening for detection of 6 lysosomal storage disorders (LSDs), namely, Niemann-Pick A/B, Krabbe, Gaucher, Fabry, and Pompe... -
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- A Simple and Rapid Method Based on Liquid Chromatography-Tandem Mass Spectrometry for the Measurement of alpha-L-Iduronidase Activity in Dried Blood Spots: An Application to Mucopolysaccharidosis I (Hurler) Screening
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Yang JS, Min HK, Oh HJ, Woo HI, Lee SY, Kim JW, Song J, Park HD
- KMID: 2363146
- Ann Lab Med.
- 2015 Jan;35(1):41-49.
- doi: 10.3343/alm.2015.35.1.41
BACKGROUND: We developed an analytical method to measure alpha-L-iduronidase (IDUA) activity in dried blood spots. This was achieved by using liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) with electrospray... -
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- A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
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Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW
- KMID: 2373595
- Ann Lab Med.
- 2016 Nov;36(6):561-572.
- doi: 10.3343/alm.2016.36.6.561
BACKGROUND: A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the... -
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