- A Case of Adrenoleukodystrophy
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Yang KS, Bae ST, Kim HB, Oh JS
- KMID: 1682780
- J Korean Pediatr Soc.
- 1989 Mar;32(3):430-437.
No abstract available. -
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- One Case of Childhood Adrenoleukodystrophy Involving the White Matter of the Frontal Lobe
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Lee HS, Kang HC
- KMID: 2177021
- J Korean Child Neurol Soc.
- 2005 May;13(1):104-108.
Childhood adrenoleukodystrophy is a progressive, demyelinating disease of the white matter. Although it is sometimes misdiagnosed as a psychiatric disorder, it can be reliably confirmed by magnetic resonance imaging(MRI) and... -
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- A clinical study on adrenoleukodystrophy
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Yu JS, Kim KJ, Ko TS, Lee BH, Hwang SH, Hwang YS, Kim IO, Chi JG
- KMID: 1684833
- J Korean Child Neurol Soc.
- 1993 Sep;1(1):50-63.
No abstract available. -
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- Adrenoleukodystrophy Presenting as Secondary Erythrocytosis
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Hong JM, Kim SI
- KMID: 1572467
- J Korean Neurol Assoc.
- 2006 Jun;24(3):282-285.
A 22-year-old man, who had complained of dizziness and morning headaches, was admitted because of persistent polycythemia with elevated erythropoietin. Subsequently during the work-up, he had frequent sleep apneas without... -
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- Anesthesia in a child with adrenoleukodystrophy
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Yang HJ, Kim JE, Sung TY, Cho CK, Kang PS
- KMID: 1738844
- Korean J Anesthesiol.
- 2014 Dec;67(Suppl):S106-S107.
- doi: 10.4097/kjae.2014.67.S.S106
No abstract available. -
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- Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
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Cho YK, Lee SY, Kim SW
- KMID: 2471735
- Endocrinol Metab.
- 2020 Mar;35(1):188-191.
- doi: 10.3803/EnM.2020.35.1.188
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain... -
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- An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
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Shin SJ, Kim JH, Kim YM, Kim GH, Lee BH, Yoo HW
- KMID: 2055578
- J Genet Med.
- 2013 Jun;10(1):43-46.
- doi: 10.5734/JGM.2013.10.1.43
Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused... -
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- Three Cases of Adrenoleukodystrophy
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Park SC, Kim CS, Chung KH, Cho PZ, Jang JH, Park JH, Koo HS
- KMID: 1957243
- J Korean Neurol Assoc.
- 1995 Sep;13(3):657-664.
Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of brain white matter and peripheral nerves. Authors experienced three cases of adrenoleukodystrophy in a 7... -
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- Delayed-Onset Adrenoleukodystrophy after Cerebral Contusion: Progressive Pattern of Demyelination on Serial MR Imaging
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Yoon KH, Suh DC, Lee SA, Lee HK, Choi CG, Yoo SJ
- KMID: 2346930
- J Korean Radiol Soc.
- 1996 Aug;35(2):173-176.
We described serial MR findings in a 20-year-old male with adrenoleukodystrophy who presented progressive neurologic deterioration after cerebral contusion. On MR imaging, progressive demyelination was predominant in the white matter... -
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- MR Imaging of Childhood Adrenoleukodystrophy
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Kim TK, Kim IO, Kim WS, Yeon KM
- KMID: 2201743
- J Korean Radiol Soc.
- 1994 Jul;31(1):171-176.
PURPOSE: The purpose of this study was to analyze the MR findings of childhood adrenoleukodystrophy regarding the extent of white matter degeneration and the pattern of enhancement, and to correlate these... -
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- Ambulatory Anesthesia Management of the Patient with Adrenoleukodystrophy for Dental Treatment: A Case Report
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Seo KS, Bak S, Shin TJ, Kim HJ
- KMID: 2345096
- J Korean Dent Soc Anesthesiol.
- 2010 Jun;10(1):45-49.
- doi: 10.17245/jkdsa.2010.10.1.45
Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder associated with various central nervous system problems and adrenal insufficiency. It is common in childhood and symptoms include loss of previously acquired... -
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- A Case of Adult-Onset Adrenoleukodystrophy Combined with Moyamoya Disease
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Kim YC, Park BH, Yu TY, Jin AR, Noh HJ, Yang CY, Kim HY, Cho CG
- KMID: 1468498
- J Korean Endocr Soc.
- 2009 Mar;24(1):58-62.
- doi: 10.3803/jkes.2009.24.1.58
Adrenoleukodystrophy (ALD) is a rare inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the central and peripheral nervous systems and adrenal glands, and... -
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- Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene
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Lee KS, Park EK, Hyun YS, Lee HJ, Chung KW, Koo HS, Choi KG, Park KD, Choi BO
- KMID: 1966483
- J Korean Neurol Assoc.
- 2011 Nov;29(4):356-360.
Cerebral adrenomyeloneuropathy is a subtype of X-linked adrenoleukodystrophy with a mutation of ABCD1; however, there have been no reported cases of cerebral adrenomyeloneuropathy with myelopathy. Here we report a 20-year-old... -
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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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- A Case of Adrenomyeloneuropathy
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Jeong JP, Kim CH, Lee SA
- KMID: 2342914
- J Korean Neurol Assoc.
- 2001 Jul;19(4):431-434.
We report a 37-year-old man with adrenomyeloneuropathy who presented as progressive gait disturbance. He had spastic paraparesis, hyperreflexia with Babinski's signs, a sensory level at T-4, and loss of the... -
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- Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation
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Kang JW, Lee SM, Koo KY, Lee YM, Nam HS, Quan Z, Kang HC
- KMID: 2130847
- Yonsei Med J.
- 2014 Jul;55(4):1157-1160.
- doi: 10.3349/ymj.2014.55.4.1157
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We... -
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- The Genetically Modified Polysialylated Form of Neural Cell Adhesion Molecule-Positive Cells for Potential Treatment of X-Linked Adrenoleukodystrophy
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Jang J, Kim HS, Kang JW, Kang HC
- KMID: 1776946
- Yonsei Med J.
- 2013 Jan;54(1):246-252.
- doi: 10.3349/ymj.2013.54.1.246
PURPOSE: Cell transplantation of myelin-producing exogenous cells is being extensively explored as a means of remyelinating axons in X-linked adrenoleukodystrophy. We determined whether 3,3',5-Triiodo-L-thyronine (T3) overexpresses the ABCD2 gene in... -
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- MR Imaging with Fluid Attenuated Inve rsion Recovery Sequence of Childhood Adrenoleukodystrophy: Comparisonwith T2 Weighted Spin Echo Imaging
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Hwang A, Seo JJ, Jeong GW, Chung TW, Jeong YY, Kang HK, Kook H, Woo YJ, Hwang TJ
- KMID: 2201051
- J Korean Radiol Soc.
- 1999 Mar;40(3):591-596.
- doi: 10.3348/jkrs.1999.40.3.591
PURPOSE: The purpose of this study was to evaluate the usefulness of FLAIR(Fluid Attenuated InversionRecovery) MR imaging in childhood adrenoleukodystrophy by comparing with those of T2-weighted FSE imaging, and tocorrelate... -
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- Disease Specific Induced Pluripotent Stem Cells by Using Transcription Factors
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Kang HC
- KMID: 2329439
- J Korean Child Neurol Soc.
- 2010 May;18(1):1-6.
The recent years have seen great advances in reversal of programming of differentiated somatic cells towards pluripotency by methods not involving nuclear transfer. Although differentiation of cells involves complex genetic... -
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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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