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Molecular genetics of citrullinemia types I and II.
Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes have been reported. The clinicalExpand
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Differentially expressed genes related to major depressive disorder and antidepressant response: genome-wide gene expression analysis
Treatment response to antidepressants is limited and varies among patients with major depressive disorder (MDD). To discover genes and mechanisms related to the pathophysiology of MDD andExpand
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Measurements of 6-thioguanine nucleotide levels with TPMT and NUDT15 genotyping in patients with Crohn’s disease
The association between the 6-thioguanine nucleotide (6-TGN) level and clinical remission in Crohn’s disease (CD) remains controversial. Thiopurine-induced leukopenia is a life-threateningExpand
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Effect of genetic polymorphisms on therapeutic response and clinical outcomes in pancreatic cancer patients treated with gemcitabine.
AIM Gemcitabine is the first chemotherapeutic agent to show clinical benefits in pancreatic cancer patients. While interindividual variability in chemoresponse is observed, genetic factors thatExpand
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Acute myeloid leukemia with complex hypodiploidy and loss of heterozygosity of 17p in a boy with Fanconi anemia.
Fanconi anemia (FA) is a congenital bone marrow failure syndrome in association with increased susceptibility to malignancy. We report the first in-depth description of a boy with FA who developedExpand
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A Simple and Rapid Method Based on Liquid Chromatography-Tandem Mass Spectrometry for the Measurement of α-L-Iduronidase Activity in Dried Blood Spots: An Application to Mucopolysaccharidosis I
Background We developed an analytical method to measure α-L-iduronidase (IDUA) activity in dried blood spots. This was achieved by using liquid chromatography coupled to tandem mass spectrometryExpand
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Pathway genes and metabolites in thiopurine therapy in Korean children with acute lymphoblastic leukaemia
We aimed to investigate the impact of various genetic polymorphisms affecting thiopurine metabolism pathways and toxicity in paediatric acute lymphoblastic leukaemia patients for the first time inExpand
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A novel ACAD8 mutation in asymptomatic patients with isobutyryl‐CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum
To the Editor : Isobutyryl-CoA dehydrogenase (IBD) deficiency is a very rare autosomal recessive metabolic disorder that is related to valine catabolism. Inherited metabolic disorders (IMDs) with anExpand
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Severe Fever with Thrombocytopenia Syndrome in Patients Suspected of Having Scrub Typhus
To determine prevalence of severe fever with thrombocytopenia syndrome in South Korea, we examined serum samples from patients with fever and insect bite history in scrub typhus–endemic areas. DuringExpand
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Serum Cytokine Levels in Major Depressive Disorder and Its Role in Antidepressant Response
Objective Cytokines have been reported to have key roles in major depressive disorder (MDD). However, much less is known about cytokines in MDD and antidepressant treatment due to the diversity ofExpand
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