Ethylmalonic Encephalopathy의 1례

• Sin, Yun-Jeong;Jang, Seong-Hui;An, Yeong-Min;Yun, Hye-Ran
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.1 no.1
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  • pp.13-14
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  • 2001
• PDF

Application of Tandem Mass Spectrometry for Newborn Screening in Korea

• Kim, Suk-Ja;Jeong, Tae-Eun;Lee, Geon-Su
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.1 no.1
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  • pp.47-47
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  • 2001
• PDF

Galactosialidosis

• Im, Dong-Jin;Lee, Ji-Eun;Jin, Dong-Gyu
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.1 no.1
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  • pp.1-4
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  • 2001
• PDF

Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorder in Fatty Acid, Organic Acid, and Amino Acid Metabolism

• Naylor, Edwin W.;Chace, Donald H.
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.1 no.1
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  • pp.48-53
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  • 2001
• PDF

신생아 스크리닝 검사로 발견된 MCAD 결핍 환자 2례

• Kim, Suk-Ja;Jeon, Yeong-Mi;Strauss, Arnold W.
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.6 no.1
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  • pp.1-5
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  • 2006
• PDF

Diagnosis and Treatment Guidelines for Phenyketonuria (페닐케톤뇨증의 진단과 치료 지침)

• Lee, Dong Hwan
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.12 no.1
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  • pp.1-4
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  • 2012
• PDF

유전성 대사질환의 유전자진단의 최신지견

• Kim, Gu-Hwan;Lee, Beom-Hui;Yu, Han-Uk
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.11 no.1
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  • pp.1-7
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  • 2011
• PDF

Rhizomelic Chondrodysplasia Punctata 1례

• Kim, Dal-Hyeon;Gwon, Yeong-Se;Jeon, Yong-Hun;Yun, Hye-Ran
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.2 no.1
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  • pp.20-22
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  • 2002
• PDF

대사성 간질환의 간이식에 의한 치료 경험 - 서울아산병원 경험 -

• Kim, Gyeong-Mo;Yu, Han-Uk
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.2 no.1
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  • pp.80-84
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  • 2002
• PDF

Late-onset Ornithine Transcarbamylase Deficiency in Male Patients : Spectrum of Clinical Presentations, Molecular Pathology and Molecular Epidemiology

• Yoshino, Makoto
• • Journal of The Korean Society of Inherited Metabolic disease
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  • v.2 no.1
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  • pp.72-76
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  • 2002
• PDF

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