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1

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report

Hye-Ran Yoon, Kyung Ryul Lee, Seungwoo Kang, Dong Hwan Lee, Han-Wook Yoo, Won-Ki Min, Dong Hee Cho, Son Moon Shin, Jongwon Kim, Junghan Song, Ho Joo Yoon, Sonsang Seo, Si Houn Hahn

Journal:

Clinica Chimica Acta

Year:

2005

Language:

english

File:

PDF, 157 KB

english, 2005

2

Clinical re-sequencing for the diagnosis of mitochondrial disorders reveals high genetic heterogeneity

DaRe, Jeana T., Vasta, Valeria, Penn, John, Leighton, Justin, Hahn, Si Houn

Journal:

Year:

2013

Language:

english

File:

PDF, 69 KB

english, 2013

3

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

Eun Kyung Kim, Ook Joon Yoo, Kyu Young Song, Han Wook Yoo, Sang Yong Choi, Sung Won Cho, Si Houn Hahn

Journal:

Year:

1998

Language:

english

File:

PDF, 168 KB

english, 1998

4

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

Kyeong-Man Hong, Si-Houn Hahn, Moon-Kee Paik

Journal:

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

5

A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: First reported Korean case

Eun-Ha Lee, Jae-Hyun Park, Chang-Jun Coe, Si-Houn Hahn

Journal:

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

6

Wilson disease—Keeping the bar for diagnosis raised

Roman E. Perri, Si Houn Hahn, Matthew J. Ferber, Patrick S. Kamath

Journal:

Year:

2005

Language:

english

File:

PDF, 47 KB

english, 2005

7

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1

Si Houn Hahn, Donna Krasnewich, Mark Brantly, Eli Anne Kvittingen, William A. Gahl

Journal:

Year:

1995

Language:

english

File:

PDF, 719 KB

english, 1995

8

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC–MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures

Katerina Sadilkova, Sidney M. Gospe Jr., Si Houn Hahn

Journal:

Journal of Neuroscience Methods

Year:

2009

Language:

english

File:

PDF, 531 KB

english, 2009

9

Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene

Won Jun Oh, Eun Kyung Kim, Jung Ho Ko, Seung Hee Yoo, Si Houn Hahn, Ook-Joon Yoo

Journal:

Year:

2002

Language:

english

File:

PDF, 379 KB

english, 2002

10

Monoaminergic Effects of Folinic Acid, l-DOPA, and 5-Hydroxytryptophan in Dihydropteridine Reductase Deficiency

David S. Goldstein, Si-Houn Hahn, Courtney Holmes, Cynthia Tifft, Judith Harvey-White, Sheldon Milstein, Seymour Kaufman

Journal:

Journal of Neurochemistry

Year:

1995

Language:

english

File:

PDF, 298 KB

english, 1995

11

Electrohydrodynamic(ehd) enhancement of boiling heat transfer with a lo-fin tube

Sang Houn Han, Min-Kyun Na, Si-Doek Oh, Ho-Young Kwak

Journal:

Journal of Mechanical Science and Technology

Year:

1999

Language:

english

File:

PDF, 602 KB

english, 1999

12

Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes

Hoon-Chul Kang, Ji Won Kwon, Young Mock Lee, Heung Dong Kim, Hong Jin Lee, Si Houn Hahn

Journal:

Child's Nervous System

Year:

2007

Language:

english

File:

PDF, 153 KB

english, 2007

13

The First Successful Prenatal Diagnosis on a Korean Family with Citrullinemia

Kyeong-Man Hong, Moon-Kee Paik, Ook-Joon Yoo, Si-Houn Hahn

Journal:

Molecules and Cells

Year:

2000

Language:

english

File:

PDF, 92 KB

english, 2000

14

Connexin26 Mutations Associated With Nonsyndromic Hearing Loss

Hong-Joon Park, Si Houn Hahn, Young-Myoung Chun, Keehyun Park, Hee-Nam Kim

Journal:

The Laryngoscope

Year:

2000

Language:

english

File:

PDF, 636 KB

english, 2000

15

OsREL2, a rice TOPLESS homolog functions in axillary meristem development in rice inflorescence

Yerim Kwon, Si-in Yu, Joo-hyuk Park, Ying Li, Jin-Hee Han, Hemasundar Alavilli, Jung-Il Cho, Tae-Houn Kim, Jong-Seong Jeon, Byeong-ha Lee

Journal:

Plant Biotechnology Reports

Year:

2012

Language:

english

File:

PDF, 1.07 MB

english, 2012

16

Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS

Sandra A. Kerfoot, Sunhee Jung, Karin Golob, Troy R. Torgerson, Si Houn Hahn

Journal:

PROTEOMICS - Clinical Applications

Year:

2012

Language:

english

File:

PDF, 686 KB

english, 2012

17

Cloning and Characterization of the Promoter Region of the Wilson Disease Gene

Won Jun Oh, Eun Kyung Kim, Kee Don Park, Si Houn Hahn, Ook Joon Yoo

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 212 KB

english, 1999

18

Normal Muscle Respiratory Chain Enzymes Can Complicate Mitochondrial Disease Diagnosis

Devin Oglesbee, Debra Freedenberg, Karen A. Kramer, Bambi D. Anderson, Si Houn Hahn

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 158 KB

english, 2006

19

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Mark J. Magera, Nishantha D. Gunawardena, Si Houn Hahn, Silvia Tortorelli, Grant A. Mitchell, Stephen I. Goodman, Piero Rinaldo, Dietrich Matern

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 276 KB

english, 2006

20

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

Charles A. Kroll, Matt J. Ferber, Brian D. Dawson, Robert M. Jacobson, Kara A. Mensink, Fred Lorey, John Sherwin, George Cunningham, Piero Rinaldo, Dietrich Matern, Si Houn Hahn

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

21

Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: Identification of a novel mutation

Si-Houn Hahn, Eun-Ha Lee, Jo-Won Jung, Chang-Ho Hong, Hye-Ran Yoon, Piero Rinaldo, Harold Sims, Beverly Gibson, Arnold W. Strauss

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 160 KB

english, 1999

22

Pilot study of mass screening for Wilson's disease in Korea

Si Houn Hahn, Soo Young Lee, Young-Ju Jang, Soon Nam Kim, Ha Cheol Shin, Sun Young Park, Hee Sung Han, Eun Sun Yu, Han Wook Yoo, Jin Sung Lee, Chun Soon Chung, San Yeon Lee, Dong Hwan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 75 KB

english, 2002

23

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

Soon Nam Kim, Kyung Hwa Ryu, Eun Ha Lee, Jong Soo Kim, Si Houn Hahn

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 441 KB

english, 2002

24

Erratum to “Molecular analysis of PCCB gene in Korean patients with propionic acidemia” [Mol. Genet. Metab. 77 (2002) 209–216]

Soon Nam Kim, Kyung Hwa Ryu, Eun Ha Lee, Jong Soo Kim, Si Houn Hahn

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 227 KB

english, 2003

25

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem, Gianfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, Maria-Teresa Garcia-Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn H

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 842 KB

english, 2004

26

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

Valeria Vasta, J Lawrence Merritt II, Russell P. Saneto, Si Houn Hahn

Journal:

Pediatrics International

Year:

2012

Language:

english

File:

PDF, 272 KB

english, 2012

27

Newborn screening and renal disease: where we have been; where we are now; where we are going

Merritt, J. Lawrence, Askenazi, David, Hahn, Si Houn

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 678 KB

english, 2012

28

Next generation sequence analysis for mitochondrial disorders

Valeria Vasta, Sarah B Ng, Emily H Turner, Jay Shendure, Si Houn Hahn

Journal:

Genome Medicine

Year:

2009

Language:

english

File:

PDF, 106 KB

english, 2009

29

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS

Jung, Sunhee, Tran, Nguyen-Thao B., Gospe, Sidney M., Hahn, Si Houn

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 317 KB

english, 2013

30

In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells

Thoene, Jess, Goss, Thomas, Witcher, Marc, Mullet, Jodi, N'Kuli, Francisca, Van Der Smissen, Patrick, Courtoy, Pierre, Hahn, Si Houn

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.30 MB

english, 2013

31

Targeted next-generation sequencing expands the spectrum of mitochondrial disorders

Journal:

Genome Medicine

Year:

2012

Language:

english

File:

PDF, 77 KB

english, 2012

32

Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy

Jansen, Laura A., Hevner, Robert F., Roden, William H., Hahn, Si Houn, Jung, Sunhee, Gospe, Sidney M.

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 876 KB

english, 2014

33

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)

Underhill, Hunter R, Hahn, Si Houn, Hale, Susan L, Merritt, J Lawrence

Journal:

Pediatrics International

Year:

2013

Language:

english

File:

PDF, 305 KB

english, 2013

34

Population screening for Wilson's disease

Journal:

Annals of the New York Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 92 KB

english, 2014

35

Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro

Hahn, Si Houn, Yoo, Ook Joon, Gahl, William A

Journal:

Experimental and Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 96 KB

english, 2001

36

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Minutti, Carla Z., Lacey, Jean M., Magera, Mark J., Hahn, Si Houn, McCann, Mark, Schulze, Andreas, Cheillan, David, Dorche, Claude, Chace, Donald H., Lymp, James F., Zimmerman, Donald, Rinaldo, Piero,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2004

Language:

english

File:

PDF, 152 KB

english, 2004

37

Metallothionein Synthesis and Degradation in Indian Childhood Cirrhosis Fibroblasts

Hahn, Si Houn, Brantly, Mark L, Oliver, Constance, Adamson, Megan, Kaler, Stephen G, Gahl, William A

Journal:

Pediatric Research

Year:

1994

Language:

english

File:

PDF, 797 KB

english, 1994

38

Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Ensenauer, Regina, Winters, Jennifer L, Parton, Patricia A, Kronn, David F, Kim, Jong-Won, Matern, Dietrich, Rinaldo, Piero, Hahn, Si Houn

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 664 KB

english, 2005

39

Dramatic Response Following Lamotrigine in a Patient with Epileptic Encephalopathy and a de novo CACNA1A Variant

Byers, Heather M., Beatty, Christopher W., Hahn, Si Houn, Gospe, Sidney M.

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 535 KB

english, 2016

40

Genotype-Phenotype Correlation in Wilson Disease

Horslen, Simon, Hahn, Si Houn

Journal:

Journal of Clinical Gastroenterology

Year:

2010

Language:

english

File:

PDF, 208 KB

english, 2010

41

Quantification of ATP7B protein in Dried Blood Spots by Peptide Immuno-SRM as a potential screen for Wilson Disease

Jung, Sunhee, Whiteaker, Jeffrey R., Zhao, Lei, Yoo, Han-Wook, Paulovich, Amanda G, Hahn, Si Houn

Journal:

Journal of Proteome Research

Year:

2016

Language:

english

File:

PDF, 983 KB

english, 2016

42

Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans

Chen, Xiulian, Thorburn, David R., Wong, Lee-Jun, Vladutiu, Georgirene D., Haas, Richard H., Le, Thuy, Hoppel, Charles, Sedensky, Margaret, Morgan, Philip, Hahn, Si Houn

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 541 KB

english, 2011

43

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum

Kim, Soo Yeon, Kim, Woo Joong, Kim, Hyuna, Choi, Sun Ah, Lee, Jin Sook, Cho, Anna, Jang, Se Song, Lim, Byung Chan, Kim, Ki Joong, Kim, Jong-Il, Hahn, Si Houn, Chae, Jong-Hee

Journal:

Year:

2018

Language:

english

File:

PDF, 1.06 MB

english, 2018

44

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Hahn, Si Houn, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Gambello, Michael J, Gibson, James B, Hillman, Richard, Stockton, David W, Day, John W, Wang, Raymond Y, An Haack, K

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 334 KB

english, 2018

45

Metabolic evaluation of children with global developmental delay

Eun, So-Hee, Hahn, Si Houn

Journal:

Korean Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 519 KB

english, 2015

46

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

Collins, Christopher J., Chang, Irene J., Jung, Sunhee, Dayuha, Remwilyn, Whiteaker, Jeffrey R., Segundo, Gesmar R. S., Torgerson, Troy R., Ochs, Hans D., Paulovich, Amanda G., Hahn, Si Houn

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 1.90 MB

english, 2018

47

Linear and whorled nevoid hypermelanosis with delayed psychomotor development

Yim, Shin Young, Lee, Il Yung, Rah, Ueon Woo, Moon, Hae Won, Hahn, Si Houn, Lee, Eun So, Yim, Hyun Lee

Journal:

Yonsei Medical Journal

Year:

1996

File:

PDF, 3.52 MB

1996

48

HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population

Lee, Ji Yon, Yoo, Kyung Hwa, Hahn, Si Houn

Journal:

Journal of Korean Medical Science

Year:

2000

File:

PDF, 458 KB

2000

49

The coâoccurrence of Wilson disease and Xâlinked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 406 KB

2020

50

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots

Collins, Christopher J., Yi, Fan, Dayuha, Remwilyn, Whiteaker, Jeffrey R., Ochs, Hans D., Freeman, Alexandra, Su, Helen C., Paulovich, Amanda G., Segundo, Gesmar R. S., Torgerson, Troy, Hahn, Si Houn

Journal:

Frontiers in Immunology

Year:

2020

File:

PDF, 1.10 MB

2020