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acylcarnitine Profile과 DNA 분석을 이용하여 MTP 결핍증으로 진단된 남자환아 1 례
The first case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of 4 day- old Korean baby boy
초록
Summary : We report here the first Korean case with TFP deficiency, whose molecular diagnosis revealed a novel mutation in the ?subunit of the TFP and the rare combination of two intergenic region (C/C and G/G) polymorphisms.
- 제목
- acylcarnitine Profile과 DNA 분석을 이용하여 MTP 결핍증으로 진단된 남자환아 1 례
- 제목 (타언어)
- The first case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of 4 day- old Korean baby boy
- 저자
- LEE JI EUN
- 학회명
- 제3회 대한 유전성 대사 질환 학회