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

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

유전성 대사질환의 유전자진단의 최신지견

• Kim, Gu-Hwan;Lee, Beom-Hui;Yu, Han-Uk
• • Journal of The Korean Society of Inherited Metabolic disease
  • /
  • v.11 no.1
  • /
  • pp.1-7
  • /
  • 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
  • /
  • v.2 no.1
  • /
  • pp.20-22
  • /
  • 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
  • /
  • v.2 no.1
  • /
  • pp.80-84
  • /
  • 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
  • /
  • v.2 no.1
  • /
  • pp.72-76
  • /
  • 2002
• PDF

Molecular Characterization in Korean Patients with Inborn Error of Urea Cycle (한국인 요소 회로 대사 이상 환자의 분자 유전학적 결함에 대한 연구)

• Kim, Gu-Hwan;Yu, Han-Uk
• • Journal of The Korean Society of Inherited Metabolic disease
  • /
  • v.5 no.1
  • /
  • pp.88-93
  • /
  • 2005
• PDF

Tandem Mass Spectrometry를 이용한 선천성 대사이상 질환 선별검사 : 2년 경험을 통한 효용성평가 및 향후 전망

• Lee, Eun-Hui
• • Journal of The Korean Society of Inherited Metabolic disease
  • /
  • v.3 no.1
  • /
  • pp.94-96
  • /
  • 2003
• PDF

급성 저혈당 발작을 보인 Long-chain 3-ketoacyl-CoA Thiolase 결핍증 삼남매

• Nam, Sang-Uk;Yun, Hye-Ran
• • Journal of The Korean Society of Inherited Metabolic disease
  • /
  • v.3 no.1
  • /
  • pp.45-50
  • /
  • 2003
• PDF

신생아 젖산혈증으로 사망한 5명의 자녀를 지닌 Long-chain L-3-hydroxyacyl CoA Dehydrogenase(LCHAD) 결핍 가계

• Sin, Yeong-Rim;Yu, Han-Uk
• • Journal of The Korean Society of Inherited Metabolic disease
  • /
  • v.3 no.1
  • /
  • pp.51-57
  • /
  • 2003
• PDF

Sudden Infant Death in the Second Case of Korean Girl with Very Long Chain Acyl CoA Dehydrogenase (VLCAD) Deficiency

• Yoon, Hye-Ran;Strauss, Arnold W;Yoo, Han-Wook
• • Journal of The Korean Society of Inherited Metabolic disease
  • /
  • v.1 no.1
  • /
  • pp.28-29
  • /
  • 2001
• PDF

---