Reduction of the HIV Seroconversion Window Period and False Positive Rate by Using ADVIA Centaur HIV Antigen/Antibody Combo Assay

by Lee, Kyunghoon, Park, Hyung-Doo, Kang, Eun-Suk
Published 2013

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I

by Kwak, Min Jung, Huh, Rimm, Kim, Jinsup, Park, Hyung-Doo, Cho, Sung Yoon, Jin, Dong-Kyu
Published 2016

Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Measurement of Leukocyte Arylsulfatase A Activity Using a Natural Substrate

by Han, Minje, Jun, Sun-Hee, Song, Sang Hoon, Park, Hyung-Doo, Park, Kyoung Un, Song, Junghan
Published 2015

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

by Woo, Hye In, Park, Hyung-Doo, Lee, Yong-Wha, Lee, Dong Hwan, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won
Published 2011

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

by Yoo, Yangho, Chang, Mi Sun, Lee, Jieun, Cho, Sung Yoon, Park, Sung Won, Jin, Dong-Kyu, Park, Hyung-Doo
Published 2013

Dried Blood Spot Testing for Seven Steroids Using Liquid Chromatography-Tandem Mass Spectrometry With Reference Interval Determination in the Korean Population

by Kim, Borahm, Lee, Mi-Na, Park, Hyung-Doo, Kim, Jong Won, Chang, Yun Sil, Park, Won Soon, Lee, Soo-Youn
Published 2015

Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study

by Jeong, Yu Ju, Kang, Ben, Choi, So Yoon, Ki, Chang-Seok, Lee, Soo-Youn, Park, Hyung-Doo, Choe, Yon Ho
Published 2014

Performance Evaluation of the Serum Thyroglobulin Assays With Immunochemiluminometric Assay and Immunoradiometric Assay for Differentiated Thyroid Cancer

by Cho, Yoon Young, Chun, Sejong, Lee, Soo-Youn, Chung, Jae Hoon, Park, Hyung-Doo, Kim, Sun Wook
Published 2016

A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB

by Kim, Young-Eun, Park, Hyung-Doo, Jang, Mi-Ae, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Cho, Sung Yoon, Jin, Dong-Kyu
Published 2013

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

by Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu
Published 2012

Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

by Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu
Published 2013

The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

by Huh, Hee Jae, Seo, Ja Young, Cho, Sung Yoon, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Park, Hyung-Doo, Jin, Dong-Kyu
Published 2013

Development and Validation of Liquid Chromatography-Tandem Mass Spectrometry Method for Quantification of Plasma Metanephrines for Differential Diagnosis of Adrenal Incidentaloma

by Lee, Sae-Mi, Lee, Mi-Na, Oh, Hyeon Ju, Cho, Yoon Young, Kim, Jae Hyeon, Woo, Hye In, Park, Hyung-Doo, Lee, Soo-Youn
Published 2015

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymo...

by Hong, Geehay, Park, Hyung-Doo, Choi, Rihwa, Jin, Dong-Kyu, Kim, Jae Hyeon, Ki, Chang-Seok, Lee, Soo-Youn, Song, Junghan, Kim, Jong-Won
Published 2015

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

by Choi, Rihwa, Park, Hyung-Doo, Yang, Mina, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Song, Junghan, Chang, Yun Sil, Park, Won Soon
Published 2017

First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant

by Cho, Yoon Young, Song, Ju-Sun, Park, Hyung-Doo, Kim, Young Nam, Kim, Hye-In, Kim, Tae Hyuk, Chung, Jae Hoon, Ki, Chang-Seok, Kim, Sun Wook
Published 2017

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening

by Park, Kyoung-Jin, Park, Seungman, Lee, Eunhee, Park, Jong-Ho, Park, June-Hee, Park, Hyung-Doo, Lee, Soo-Youn, Kim, Jong-Won
Published 2016

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

by Choi, Rihwa, Park, Hyung-Doo, Kang, Ben, Choi, So Yoon, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Song, Junghan, Choe, Yon Ho
Published 2016

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population

by Park, Kyoung-Jin, Park, Hyun-Kyung, Kim, Young-Jin, Lee, Kyoung-Ryul, Park, Jong-Ho, Park, June-Hee, Park, Hyung-Doo, Lee, Soo-Youn, Kim, Jong-Won
Published 2016

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy

by Han, Minje, Jun, Sun-Hee, Lee, Yun-Jin, Eun, Baik-Lin, Lee, Seung Jun, Seong, Moon-Woo, Park, Sung Sup, Song, Sang Hoon, Park, Hyung-Doo, Song, Junghan
Published 2015