- A Korean Family with Cholesterol Ester Transfer Protein Deficiency
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Youn SY, Shin IS, Hong YH, Lee DH
- KMID: 2055569
- J Genet Med.
- 2012 Jun;9(1):38-41.
- doi: 10.5734/JGM.2012.9.1.38
A 32-year-old female patient and her sister show high levels of high density lipoprotein (HDL) cholesterol in regular health checkups, since female patient was 11 years old. The patient's serum... -
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- A Case Refort of Sandhoff Disease
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Yun YM, Lee SN
- KMID: 1099088
- Korean J Ophthalmol.
- 2005 Mar;19(1):68-72.
- doi: 10.3341/kjo.2005.19.1.68
Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient... -
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- Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency
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Woo HI, Park HD, Lee YW, Lee DH, Ki CS, Lee SY, Kim JW
- KMID: 1096662
- Korean J Lab Med.
- 2011 Jan;31(1):54-60.
- doi: 10.3343/kjlm.2011.31.1.54
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death... -
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