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NUDT15 Genotyping in Thiopurine Drug Therapy

Lee JK, Choi R, Lee SY

Thiopurine is a pro-drug used to treat patients with inflammatory bowel disease, leukemia, malignancies, and autoimmune diseases as well as an immunosuppressive agent for post-transplantation states. Thiopurine drugs are metabolized...
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Report of the Korean Association of External Quality Assessment Service on Serologic Tests for Syphilis (2018–2019)

Ma T, Choi HW, Choi R, Lee SG, Kee SJ

The 2018–2019 surveys on the external quality assessment scheme for serologic tests for syphilis in Korea were conducted by the Korean Association of External Quality Assessment Service. Proficiency testing (PT)...
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Quantification of Thioguanine in DNA Using Liquid Chromatography-Tandem Mass Spectrometry for Routine Thiopurine Drug Monitoring in Patients With Pediatric Acute Lymphoblastic Leukemia

Choi R, Chun MR, Park J, Lee JW, Ju HY, Cho HW, Hyun JK, Koo HH, Yi ES, Lee SY

Background: We developed an assay to measure DNA-incorporated 6-thioguanine (DNATG) and validated its clinical applicability in Korean pediatric patients with acute lymphoblastic leukemia (ALL) in order to improve individualized thiopurine...
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Recent Seroprevalence of Anti-hepatitis A IgG in the Korean Population: a Large, Population-based Study

Choi R, Park MJ, Lee SG, Lee EH

Background: Because there is limited recent information on this topic, this study investigated the seroprevalence of anti-hepatitis A virus (HAV) immunoglobulin G (IgG) in the South Korean population in 2015–2017. Methods:...
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Development and Validation of a Novel Warfarin Dosing Algorithm for Korean Patients With VKORC1 1173C

Cho EH, Lee K, Yang M, Choi R, Baek SY, Sohn I, Kim JS, On YK, Bang OY, Cho HJ, Lee SY

BACKGROUND: Differences in the performance of suggested warfarin dosing algorithms among different ethnicities and genotypes have been reported; this necessitates the development of an algorithm with enhanced performance for specific...
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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...
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Suspected transcutaneous cerebral spinal fluid leakage without postural headache after implantable intrathecal drug delivery system removal: A case report

Yang J, Choi Y, Park J, Jeong J, Lee B, Lee K, Lee J, Choi R

A 55-year-old man with an implantable intrathecal drug delivery system (IDDS) implant removal surgery was performed to control a suspected implant infection. Clear discharge from a lumbar wound was detected...
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NUDT15 Variants Cause Hematopoietic Toxicity with Low 6-TGN Levels in Children with Acute Lymphoblastic Leukemia

Yi ES, Choi YB, Choi R, Lee NH, Lee JW, Yoo KH, Sung KW, Lee SY, Koo HH

PURPOSE: We aimed to identify the impact of NUDT15 variants on thiopurine intolerance and 6-thioguanine nucleotide (6-TGN) levels in Korean children with acute lymphoblastic leukemia (ALL). MATERIALS AND METHODS: Genotyping of...
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Survey of Eight Hormone Tests Used by Clinical Laboratories in Korea

Choi R, Park HD

BACKGROUND: This study aimed to investigate the current statuses of eight hormone tests (testosterone, estradiol, prolactin, progesterone, luteinizing hormone, follicle-stimulating hormone, parathyroid hormone, and thyroglobulin) used by clinical laboratories in...
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Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH

BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS:...
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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...
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Importance of Specimen Type and Quality in Diagnosing Middle East Respiratory Syndrome

Huh HJ, Ko JH, Kim YE, Park CH, Hong G, Choi R, Yu S, Cho SY, Kang JM, Lee MK, Ki CS, Kang ES, Lee NY, Kim JW, Kim YJ, Ha YE, Kang CI, Chung DR, Peck KR, Song JH

No abstract available.
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Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

Choi R, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS

Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs...
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A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation

Kim YB, Park HD, Choi R, Lee SY, Ki CS, Song J, Kim JW, Lee J

Metachromatic leukodystrophy is an inherited lysosomal storage disorder caused by the deficiency of arylsulfatase A activity. The patient in this study, a 5-yr-old girl, presented with progressive psychomotor regression. An...
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Congenital mitral valve stenosis in a Chinchilla cat

Lu TL, Hung YW, Choi R, Hyun C

A one-year-old, 3.25 kg intact male Chinchilla cat presented with acute right hind limb paralysis. Diagnostic imaging studies found cardiomegaly with interstitial lung pattern, abnormal mitral valve leaflets without maximum...
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Protective Effects of Curcumin on Renal Oxidative Stress and Lipid Metabolism in a Rat Model of Type 2 Diabetic Nephropathy

Kim BH, Lee ES, Choi R, Nawaboot J, Lee MY, Lee EY, Kim HS, Chung CH

PURPOSE: Diabetic nephropathy is a serious complication of type 2 diabetes mellitus, and delaying the development of diabetic nephropathy in patients with diabetes mellitus is very important. In this study,...
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Evaluation of the Anyplex BRAF V600E Real-Time Detection Assay Using Dual-Priming Oligonucleotide Technology in Fine-Needle Aspirates of Thyroid Nodules

Choi R, Park KS, Kim JW, Ki CS

BACKGROUND: Several molecular assays have been developed to detect the BRAF V600E mutation in fine needle aspirates (FNAs) for the diagnosis of papillary thyroid cancer. Using a multiplex PCR technique,...
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CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW

CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions....
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Atropine-induced atrial bigeminy during general anesthesia in a Cocker Spaniel dog

Suh SI, Kim SE, Choi R, Hyun C

A 12-year-old female Cocker Spaniel (7.5 kg of body weight) was presented for resection of a mammary gland tumor. During surgery, the heart rate was remarkably decreased due to a...
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Familial mitral valve prolapse in a Maltese dog family

Suh SI, Choi R, Hyun C

Mitral valvular prolapse (MVP) in dogs is characterized by myxomatous valvular degeneration, which is caused by abnormal valvular thickening and incomplete coaptation of the mitral valve leading to mitral regurgitation....
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