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Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center
Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X‐linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene.
A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis
Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However,Expand
The First Case of Eggerthella lenta Bacteremia in Korea
Eggerthella lenta, previously Eubacterium lentum, is a non-motile, non-spore-forming anaerobic gram-positive bacillus. In 1999, the designation Eggerthella gen. nov. (named in honor of ArnoldExpand
Significance of local international sensitivity index systems for monitoring warfarin and liver function.
OBJECTIVES Use of a local calibrator has been recommended for standardization of the international normalized ratio (INR) and international sensitivity index (ISI). We investigated the performance ofExpand
Bleeding Tendency of a Light Chain (AL) Amyloidosis Patient Accompanied by Asymptomatic Plasma Cell Myeloma
eISSN 2093-6338 응급실에서 시행한 복부초음파와 컴퓨터단층촬영에서 비장피 막하혈종(splenic subscapular hematoma)과 간종대(hepatomegaly)가 관찰되었다(Fig. 1). 일반혈액검사에서 혈색소 9.5 g/dL, 백혈 구수 5,600/μL (중성구 70%, 림프구 24%, 단구 5%, 호산구 1%), 혈 소판수Expand