- 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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- Inborn Errors of Metabolism in Korea
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Lee HJ
- KMID: 2185707
- J Korean Neurol Assoc.
- 2004 Feb;22(1):1-10.
Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have... -
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- Adrenomyeloneuropathy Presenting With Adrenal Insufficiency
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Park HD, Park SJ, Choi YM, Kang JH
- KMID: 2266613
- Ann Rehabil Med.
- 2013 Aug;37(4):563-566.
- doi: 10.5535/arm.2013.37.4.563
Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by... -
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- Zellweger Syndrome : First Confirmed Neonatal Case in Korea
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Kim SS, An YH, Chang YS, Jin DK, Park WS, Lee MH, Kim JW, Yoon HK, Kim BK
- KMID: 1606284
- J Korean Pediatr Soc.
- 2001 Jun;44(6):694-698.
We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked... -
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- A Case of Neonatal Adrenoleukodystrophy Presented with Neonatal Seizure
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Choi J, You SJ, Ko TS, Kim EA, Kim KS, Pi SY, Yoo HW
- KMID: 2177020
- J Korean Child Neurol Soc.
- 2005 May;13(1):99-103.
Neonatal adrenoleukodystrophy(NALD) is an inherited autosomal recessive disease characterized by very early onset of neurologic deterioration, extreme hypotonia, poor sucking reflex, failure to thrive, poor or absent grasp and Moro... -
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- A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
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Jwa HJ, Lee KS, Kim GH, Yoo HW, Lim HH
- KMID: 1727497
- Korean J Pediatr.
- 2014 Sep;57(9):416-419.
- doi: 10.3345/kjp.2014.57.9.416
X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD... -
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