- Peroxisomal disorders
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Lee SY
- KMID: 2168072
- Hanyang Med Rev.
- 2005 Aug;25(3):42-48.
Peroxisomes are subcellular organells catalyzing a number of important functions in cellular metabolism. Their functions are mostly related to lipid metabolism. Genetic disorders of peroxisomes are divided into 2 categories:... -
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- Galactosemia
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Yang SH
- KMID: 2168071
- Hanyang Med Rev.
- 2005 Aug;25(3):37-41.
Galactosemia, a term that denotes the presence of galactose in the blood, is the name of rare inborn error of galactose metabolism due to a deficiency of the enzyme galactokinase... -
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- Mucopolysaccharidosis and mucolipidosis
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Chang SH, Song SM, Sohn WY, Jin DK
- KMID: 2168070
- Hanyang Med Rev.
- 2005 Aug;25(3):27-36.
Mucopolysaccharidosis (MPS) and mucolipidosis(ML) belong to a group of rare genetic disorders of lysosomal enzymes and share some clinical manifestations. MPS is characterized by the accumulation of glycosaminoglycans (GAG) and... -
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- Sphingolipidoses
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Yoo HW
- KMID: 2168069
- Hanyang Med Rev.
- 2005 Aug;25(3):19-26.
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is... -
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- Amino acid metabolism disorders
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Lee DH
- KMID: 2168074
- Hanyang Med Rev.
- 2005 Aug;25(3):65-78.
Deficiencies of enzymes involved in amino acid metabolism frequently result in accumulation of toxic substances and subsequent organ damage. The brain, liver and kidneys are the most frequently affected organs.... -
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- Fatty acid oxidation disorders
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Yoon HR
- KMID: 2168075
- Hanyang Med Rev.
- 2005 Aug;25(3):79-91.
Inborn errors of fatty acid mitochondrial oxidation (FAOD) have drawn considerable attention in recent years because of rapid pace of discovery of new defects and an ever-increasing spectrum of clinical... -
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- Mitochondrial disorders
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Lee YM, Kim HD
- KMID: 2168068
- Hanyang Med Rev.
- 2005 Aug;25(3):12-18.
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the majority of cellular energy in the form of ATP. Mitochondrial disorders are either due to... -
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- Wilson disease
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Lee JS
- KMID: 2168067
- Hanyang Med Rev.
- 2005 Aug;25(3):4-11.
Wilson disease is an autosomal recessive disorder caused by a deficient ATP7B activity. Copper is an important mineral in the body involved in mitochondrial respiration, melanin biosynthesis, dopamin metabolism, iron... -
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- Lesch-Nyhan syndrome and purine and pyrimidine metabolism didorders
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Kim SZ
- KMID: 2168076
- Hanyang Med Rev.
- 2005 Aug;25(3):92-101.
Purine & pyrimidine nucleotides are basic constituents of cellular DNA and RNA polynucleotides. Their function includes regulation of cell metabolism and function, energy conservation and transport and formation of coenzymes... -
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- Organic acidemias in Korea
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Lee HJ
- KMID: 2168073
- Hanyang Med Rev.
- 2005 Aug;25(3):49-64.
Since we started organic acid analysis in July 1997, we have collected data about organic acidemias in Korea. The data presented herein constitute our 3 years experience in organic acid... -
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