Profile

Sihoun Hahn, MD, PhD

Sihoun Hahn, MD, PhD

Mitochondrial Medicine, Genetics, Biochemical Genetics

On staff since October 2006

Children's Title: Director, Biochemical Genetics

Academic Title: Professor

Research Center: Center for Developmental Therapeutics

Sihoun Hahn, MD, PhD, is a professor of pediatrics and adjunct professor of medicine at University of Washington and Children's Hospital as head of biochemical genetics program and the director of biochemical and molecular genetics laboratory (http://www.seattlechildrens.org/geneticslab). Dr. Hahn's research has focused on copper metabolism, population screening for Wilsons disease and mitochondrial disease.

His work focused on developing a population screening method for Wilson's disease, a genetic disease in which the body cannot excrete copper properly leading to its accumulation in various organs including the liver and brain. Dr. Hahn here is focusing on developing a national screening program for every newborn by tandem mass spectrometry. Dr. Hahn serves as a member of medical advisory committee of the Wilson's Disease Association. Dr. Hahn is currently developing and validating clinical genetic test on mitochondrial disorders by high-throughput next generation sequencing technology. Other current projects in his lab focus on developing peptide finger printing analysis by tandem mass spectrometry for various metabolic and genetic disorders. Dr. Hahn hopes to improve clinical practice through integrated laboratory testing true translational research. He remains a great believer in prevention: identifying illness and providing interventions to patients before symptoms appear is always preferable to treating developed disease. He is a member of advisory committee for WA State Newborn Screening.

Overview

Board Certification(s)

Clinical Biochemical Genetics
Clinical Genetics (MD)

Medical/Professional School

Korea University College of Medicine, Seoul
Korea University College of Medicine, Seoul

Residency

Pediatrics, Korea University College of Medicine, Seoul

Fellowship

Medical Genetics, National Institute of Health, Bethesda

Clinical Interests

Copper transport disorders; Mitochondrial disorders

Research Description

My research has been focusing on copper metabolism, population screening for Wilson's disease and mitochondrial disease. The work focuses on developing a newborn screening using tandem mass spectrometry for Wilson's disease, a genetic disease in which the body cannot excrete copper properly leading to its accumulation in various organs including the liver and brain. I am developing an assay that quickly determines if the mitochondrial disease is present. I hope to improve clinical practice through integrated laboratory testing-true translational research.

Lab URL

http://www.seattlechildrens.org/research/developmental-therapeutics/labs-programs/hahn-lab/

Research Focus Area

Health Promotion and Disease Prevention, Genetics and Developmental Biology, Biochemical Genetics

Awards and Honors

Award Name Award Description Awarded By Award Date
Luminex Award Luminex Award Grant - $100,000 American College of Medical Genetics 2009
Travel Award International Congress of Inborn Errors of Metabolism 1994
National Research Service Award NIH 1990 - 1992

Publications

  • Vasta V, Merritt JL 2nd, Saneto RP, Hahn SH
    Next-generation sequencing for mitochondrial diseases reveals wide diagnostic spectrum.
    Pediatrics international : official journal of the Japan Pediatric Society , 2012 Apr, 12
  • Hahn SH
    Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
    Genome medicine , 2012 Mar. 23 : 4(3)22
  • Hahn SH
    Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
    Genome medicine , 2012 Mar. 23 : 4(3)22
  • Hahn SH, Kerfoot S, Vasta V
    Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
    Methods in molecular biology (Clifton, N.J.) , 2012 : 837169-79
  • Hahn SH, Kerfoot S, Vasta V
    Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
    Methods in molecular biology (Clifton, N.J.) , 2012 : 837169-79
  • Merritt JL 2nd, Askenazi D, Hahn SH
    Newborn screening and renal disease: where we have been; where we are now; where we are going.
    Pediatric nephrology (Berlin, Germany) , 2011 Sept. 27
  • Merritt JL 2nd, Askenazi D, Hahn SH
    Newborn screening and renal disease: where we have been; where we are now; where we are going.
    Pediatric nephrology (Berlin, Germany) , 2011 Sept. 27
  • Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH
    Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2011 Sept. : 13(9)794-9
  • Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH
    Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2011 Sept. : 13(9)794-9
  • Bennett J, Hahn SH
    Clinical molecular diagnosis of Wilson disease.
    Seminars in liver disease , 2011 Aug. : 31(3)233-8
  • Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ
    Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
    Molecular genetics and metabolism , 2011 Aug. : 103(4)349-57
  • Bennett J, Hahn SH
    Clinical molecular diagnosis of Wilson disease.
    Seminars in liver disease , 2011 Aug. : 31(3)233-8
  • Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ
    Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
    Molecular genetics and metabolism , 2011 Aug. : 103(4)349-57
  • Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG
    The role of DMQ(9) in the long-lived mutant clk-1.
    Mechanisms of ageing and development , 2011 June : 132(6-7)331-9
  • Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG
    The role of DMQ(9) in the long-lived mutant clk-1.
    Mechanisms of ageing and development , 2011 June : 132(6-7)331-9
  • Esparza EM, Golden AS, Hahn SH, Patterson K, Brandling-Bennett HA
    What syndrome is this? Infantile periorificial and intertriginous dermatitis preceding sepsis-like respiratory failure.
    Pediatric dermatology , 2011 May : 28(3)333-4
  • Vasta V, Sedensky M, Morgan P, Hahn SH
    Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
    Mitochondrion , 2011 Jan. : 11(1)136-8
  • Vasta V, Sedensky M, Morgan P, Hahn SH
    Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
    Mitochondrion , 2011 Jan. : 11(1)136-8
  • Horslen S, Hahn SH
    Genotype-phenotype correlation in Wilson disease.
    Journal of clinical gastroenterology , 2010 July : 44(6)387-8
  • Horslen S, Hahn SH
    Genotype-phenotype correlation in Wilson disease.
    Journal of clinical gastroenterology , 2010 July : 44(6)387-8
  • Sadilkova K, Gospe SM Jr, Hahn SH
    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.
    Journal of neuroscience methods , 2009 Oct. 30 : 184(1)136-41
  • Sadilkova K, Gospe SM Jr, Hahn SH
    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.
    Journal of neuroscience methods , 2009 Oct. 30 : 184(1)136-41
  • Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH
    Next generation sequence analysis for mitochondrial disorders.
    Genome medicine , 2009 Oct. 23 : 1(10)100
  • Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH
    Next generation sequence analysis for mitochondrial disorders.
    Genome medicine , 2009 Oct. 23 : 1(10)100
  • Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH
    A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
    Journal of inherited metabolic disease , 2009 July 29
  • Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH
    A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
    Journal of inherited metabolic disease , 2009 July 29
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    Epilepsia , 2009 May : 50(5)1167-75
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    Epilepsia , 2009 May : 50(5)1167-75
  • Lee JH, Lee HJ, Bin JH, Hahn SH, Kim SY, Kim HH, Lee WB
    A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby.
    Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis , 2009 Mar. : 20(2)161-4
  • Sihoun Hahn, MD, PhD
    Inherited Metabolic Disorders.
    Oxford American Handbook of Pediatrics, F. Bruder Stapleton eds. , 2009
  • deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH
    Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
    Clinical chemistry , 2008 Dec. : 54(12)1961-8
  • deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH
    Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
    Clinical chemistry , 2008 Dec. : 54(12)1961-8
  • Kang HC, Kwon JW, Lee YM, Kim HD, Lee HJ, Hahn SH
    Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery , 2007 Nov. : 23(11)1301-7
  • Kang HC, Kwon JW, Lee YM, Kim HD, Lee HJ, Hahn SH
    Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery , 2007 Nov. : 23(11)1301-7
  • Kim JW, Lee SK, Lee ZH, Shin CU, Jung YJ, Jang KT, Lee SH, Hahn SH
    Gene symbol: DSPP.
    Human genetics , 2007 Apr, : 121(2)299
  • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D
    Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2007 Feb. : 9(2)108-16
  • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D
    Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2007 Feb. : 9(2)108-16
  • Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH
    Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
    Pediatric neurology , 2006 Oct. : 35(4)289-92
  • Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH
    Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
    Pediatric neurology , 2006 Oct. : 35(4)289-92
  • Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH
    Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
    Molecular genetics and metabolism , 2006 Sept. : 89(1-2)134-8
  • Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH
    Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
    Molecular genetics and metabolism , 2006 Sept. : 89(1-2)134-8
  • Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D
    Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    Molecular genetics and metabolism , 2006 May : 88(1)16-21
  • Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D
    Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    Molecular genetics and metabolism , 2006 May : 88(1)16-21
  • Hahn SH, Minnich SJ, O'Brien JF
    Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.
    Journal of inherited metabolic disease , 2006 Feb. : 29(1)235-7
  • Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH
    Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
    Clinical chemistry , 2005 Nov. : 51(11)2110-6
  • Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH
    Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
    Clinical chemistry , 2005 Nov. : 51(11)2110-6
  • Perri RE, Hahn SH, Ferber MJ, Kamath PS
    Wilson Disease--keeping the bar for diagnosis raised.
    Hepatology (Baltimore, Md.) , 2005 Oct. : 42(4)974
  • Perri RE, Hahn SH, Ferber MJ, Kamath PS
    Wilson Disease--keeping the bar for diagnosis raised.
    Hepatology (Baltimore, Md.) , 2005 Oct. : 42(4)974
  • Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
    Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May : 7(5)339-43
  • Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
    Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May : 7(5)339-43
  • Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH
    Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
    Clinica chimica acta; international journal of clinical chemistry , 2005 Apr, : 354(1-2)167-80
  • Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH
    Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
    Clinica chimica acta; international journal of clinical chemistry , 2005 Apr, : 354(1-2)167-80
  • Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D
    The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
    Molecular genetics and metabolism , 2005 Feb. : 84(2)137-43
  • Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP
    Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
    Human genetics , 2005 Feb. : 116(3)186-91
  • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
    A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
    American journal of human genetics , 2004 Dec. : 75(6)1136-42
  • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
    A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
    American journal of human genetics , 2004 Dec. : 75(6)1136-42
  • Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
    Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
    The Journal of clinical endocrinology and metabolism , 2004 Aug. : 89(8)3687-93
  • Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP
    A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
    Human genetics , 2004 Aug. : 115(3)248-54
  • Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
    Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
    The Journal of clinical endocrinology and metabolism , 2004 Aug. : 89(8)3687-93
  • McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF
    Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
    Molecular genetics and metabolism , 2004 June : 82(2)112-20
  • Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D
    Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
    Clinical chemistry , 2004 Mar. : 50(3)621-5
  • Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D
    Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
    Clinical chemistry , 2004 Mar. : 50(3)621-5
  • Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
    Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
    American journal of human genetics , 2004 Feb. : 74(2)239-52
  • Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
    Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
    American journal of human genetics , 2004 Feb. : 74(2)239-52
  • Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ
    Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
    Journal of medical genetics , 2003 Apr, : 40(4)242-8
  • Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S
    Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
    Journal of inherited metabolic disease , 2003 : 26(1)55-66
  • Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH
    Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
    Molecular genetics and metabolism , 2002 Nov. : 77(3)209-16
  • Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH
    Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
    Molecular genetics and metabolism , 2002 Nov. : 77(3)209-16
  • Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH
    Pilot study of mass screening for Wilson's disease in Korea.
    Molecular genetics and metabolism , 2002 June : 76(2)133-6
  • Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH
    Pilot study of mass screening for Wilson's disease in Korea.
    Molecular genetics and metabolism , 2002 June : 76(2)133-6
  • Oh WJ, Kim EK, Ko JH, Yoo SH, Hahn SH, Yoo OJ
    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.
    European journal of biochemistry / FEBS , 2002 Apr, : 269(8)2151-61
  • Oh WJ, Kim EK, Ko JH, Yoo SH, Hahn SH, Yoo OJ
    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.
    European journal of biochemistry / FEBS , 2002 Apr, : 269(8)2151-61
  • Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S
    Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
    Journal of inherited metabolic disease , 2001 Dec. : 24(8)870-3
  • Hahn SH, Yoo OJ, Gahl WA
    Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro.
    Experimental & molecular medicine , 2001 Mar. 31 : 33(1)32-6
  • Hong KM, Paik MK, Yoo OJ, Hahn SH
    The first successful prenatal diagnosis on a Korean family with citrullinemia.
    Molecules and cells , 2000 Dec. 31 : 10(6)692-4
  • Kim SZ, Kupke KG, Ierardi-Curto L, Holme E, Greter J, Tanguay RM, Poudrier J, D'Astous M, Lettre F, Hahn SH, Levy HL
    Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
    Journal of inherited metabolic disease , 2000 Dec. : 23(8)791-804
  • Hong KM, Shin CH, Choi YB, Song WK, Lee SD, Rhee KI, Jang P, Pak GS, Kim JK, Paik MK, Hahn SH
    Mutation analysis of Korean patients with citrullinemia.
    Molecules and cells , 2000 Aug. 31 : 10(4)465-8
  • Lee EH, Park JH, Coe CJ, Hahn SH
    A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
    Human mutation , 2000 Aug. : 16(2)180-1
  • Hong KM, Hahn SH, Paik MK
    Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
    Human mutation , 2000 June : 15(6)585
  • Lee JY, Yoo KH, Hahn SH
    HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
    Journal of Korean medical science , 2000 Apr, : 15(2)179-82
  • Hahn SH, Lee EH, Jung JW, Hong CH, Yoon HR, Rinaldo P, Sims H, Gibson B, Strauss AW
    Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
    The Journal of pediatrics , 1999 Aug. : 135(2 Pt 1)250-3
  • Oh WJ, Kim EK, Park KD, Hahn SH, Yoo OJ
    Cloning and characterization of the promoter region of the Wilson disease gene.
    Biochemical and biophysical research communications , 1999 May 27 : 259(1)206-11
  • Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH
    Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
    Human mutation , 1998 : 11(4)275-8
  • Jeong H, Kim M, Lee J, Hahn SH, Park S, Yoo OJ
    A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.
    Thrombosis and haemostasis , 1997 Jan. : 77(1)212-3
  • Yim SY, Lee IY, Rah UW, Moon HW, Hahn SH, Lee ES, Yim HL
    Linear and whorled nevoid hypermelanosis with delayed psychomotor development.
    Yonsei medical journal , 1996 Aug. : 37(4)290-4
  • Goldstein DS, Hahn SH, Holmes C, Tifft C, Harvey-White J, Milstien S, Kaufman S
    Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
    Journal of neurochemistry , 1995 June : 64(6)2810-3
  • Hahn SH, Tanner MS, Danks DM, Gahl WA
    Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis.
    Biochemical and molecular medicine , 1995 Apr, : 54(2)142-5
  • Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA
    Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
    Human mutation , 1995 : 6(1)66-73
  • Hahn SH, Brantly ML, Oliver C, Adamson M, Kaler SG, Gahl WA
    Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
    Pediatric research , 1994 Feb. : 35(2)197-204
  • Hahn SH, Gahl WA
    Copper effects on metal regulatory factors of cultured human fibroblasts.
    Biochemical medicine and metabolic biology , 1993 Dec. : 50(3)346-57

Presentations

Presentations Title Event Location Date
Tryptic Peptide Analysis of WBC to Diagnose Genetic disorders: Application to Primary Immunodeficiency Disorders and Nephropathic Cystinosis. American Society of Human Genetics Montreal, Canada Oct. 15, 2011
Tryptic peptide analysis of Wilson disease by LC-MS/MS. International Conference on Metals and Genetics Kobe, Japan Sept. 4, 2011 - Sept. 8, 2011
A Lesson from Next-Generation Sequencing for Targeted Mitochondrial Diseases: Redefining the Diagnostic Spectrum Genetic Grand Round, Providence Sacred Heart Hospital Spokane, WA Aug. 17, 2011
Next-generation sequencing for clinical application to target mitochondrial disorders. Keynote speaker Garrod Symposium Calgary, Canada June 10, 2011
Genetic Approach to Metabolic Conditions American Society of Neuroradiology Seattle, WA June 7, 2011
Challenges in the Clinical Application of Next-Generation Sequencing for Mitochondrial Disorders. 2010 Illumina Regional Sequencing User Group Meeting Seattle, WA July 30, 2010
Diagnostic challenges in mitochondrial disorders Korea University Medical Center, Guro Hospital Seoul, Korea May 13, 2010
Diagnostic challenges in mitochondrial disorders Samsung Medical Center Seoul, Korea May 12, 2010
The recent advance in the diagnosis of genetic disorders Korean Child Neurology Society Incheon, Korea April 14, 2010
Next Generation Sequence Analysis for Mitochondrial Disorders International Congress of Inborn Errors of Metabolism San Diego, CA Aug. 30, 2009
Molecular Genetic Testing for Wilson Disease Wilson Disease Symposium, California Pacific Medical Center San Francisco, CA May 2, 2009
Conundrum of Wilson Disease XVI World Congress of Psychiatric Genetics Osaka, Japan Oct. 12, 2008 - Oct. 15, 2008
Challenges in the diagnosis of metabolic diseases Mary Bridge Children's Hospital Pediatric Neuroscience Conference Tacoma, WA April 25, 2008
Challenges in the diagnosis of metabolic diseases Madigan Hospital Developmental Pediatrics Round Tacoma, WA April 15, 2008
Wilsons disease. The Northwest Pediatric Liver Disease Symposium Seattle, WA April 11, 2008 - April 12, 2008
Newborn screening for Wilson disease Wilson Dsease Association Regional Meeting Seattle, WA Nov. 11, 2007
The expansion of Newborn Screening: Will there be a limit? Laboratory Medicine Grand Round, UW Seattle, WA May 9, 2007
Population screening for Wilson disease in the U.S. International Workshop for Wilson Disease Bethesda, MD Nov. 2, 2006 - Nov. 3, 2006
Peroxisomal proliferation activator receptor (PPAR) agonists as a potential therapeutic use for patients with mitochondrial disorders Research Forum, Mayo Clinic Rochester, MN April 21, 2006

Research Funding

Grant Title Grantor Amount Award Date
Development of a cost-effective next-generation sequencing test for mitochondrial disorders and proficiency testing for quality control Mitochondrial Research Guild, USA 2011 - 2013
Peptide Fingerprint Analysis for Primary Immunodeficiency National Institute of Health/National Inst of Allergy and Infectious Disease, U.S.A. 2010 - 2012
Quality Assessment of Mitochondrial Respiratory Chain Complex Enzyme Assays Using C. elegans ACMG/Luminex Grant Award, U.S.A. 2009 - 2010
Next Generation Sequencing for Mitochondrial Disorders Mitochondrial Guild Research, U.S.A. 2008 - 2010
Development and Validation of Clinical Tests for Mitochondrial Disorders Mitochondrial Guild Research, U.S.A. 2007 - 2009
Analysis of ATP7B in screening for Wilson disease National Inst of Diabetes and Digestive and Kidney Disease, U.S.A 2004 - 2005