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Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program

Yoo HW, Astrin KH, Desnick RJ

Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency...
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X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea

Jo EK, Kim HS, Lee MY, Iseki M, Lee JH, Song CH, Park JK, Hwang TJ, Kook H

X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of...
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Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

Shin SJ, Kim M, Chae H, Kwon A, Kim Y, Kim SJ, Yoon HE, Jekarl DW, Lee S

No abstract available.
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The prevalence study on restriction fragment length polymorphism analysis for the detection of hemophilia A carrier

Song KS, Lee CH, Chung CS, Lee K, Yang YH, Kim KY

We have analyzed two (BclI and XbaI) intragenic restriction fragment length polymorphisms (RFLPs) and St14 (DXS52) variable number of tandem repeats (VNTR) by rapid PCR method in 97 unrelated normal...
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Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene

Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH

Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors...
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Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population

Lee KA, Kim JW

  • KMID: 1115944
  • Exp Mol Med.
  • 2006 Dec;38(6):662-667.
Suitability of a specific population for linkage disequilibrium mapping studies of complex traits may be assessed by investigating the background linkage disequilibrium (BLD). We are unaware of studies for quantifying...
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Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease

Choi JH, Cho YM, Suh KS, Yoon HR, Kim GH, Kim SS, Ko JM, Lee JH, Park YS, Yoo HW

Fabrazyme has been widely used for treatment of Fabry disease since its approval by the U.S. Food and Drug Administration in 2003. This study was undertaken to assess the short-term...
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