• The Korean Journal of Physiology and Pharmacology
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• v.22 no.3
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• pp.361-361
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• 2018

• Annals of Clinical Neurophysiology
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• v.23 no.1
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• pp.61-64
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• 2021

Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder caused by mutations in the gene, ABCD1, causing abnormal accumulation of very-long-chain fatty acids in the nervous system and adrenal glands. There are various clinical manifestations of ALD. Here we report a 47-year-old male with adrenomyeloneuropathy with cerebral involvement who exhibited progressive gait disturbance and cognitive impairment. A novel frameshift variant (c.95del [p.Val32Alafs^*36]) in exon 1 of ABCD1 was identified. This report provides additional information regarding the various clinical characteristics of ALD.

• Korean Journal of Radiology
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• v.25 no.4
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• pp.399-402
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• 2024

• Clinical Endoscopy
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• v.55 no.3
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• pp.452-457
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• 2022

Colonic diffuse ganglioneuromatosis is an extremely rare disease in which multiple tumors derived from the ganglion cells, nerve fibers, and supporting cells are distributed in the colon. It is generally considered to be a benign neoplastic condition and is occasionally associated with rare hereditary conditions such as neurofibromatosis type I or multiple endocrine neoplasia type 2B. Here, we report a case of a patient in whom colon cancer developed 12 years after the initial diagnosis of colonic diffuse ganglioneuromatosis, which suggests a possible association between colonic diffuse ganglioneuromatosis and colorectal cancer.

• Journal of The Korean Radiological Technologist Association
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• v.25 no.1
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• pp.283-291
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• 1999

• 대한핵의학회:학술대회논문집
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• 2000.05a
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• pp.72.2-72.2
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• 2000

• 대한핵의학회:학술대회논문집
• /
• 2002.11a
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• pp.23.1-23.1
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• 2002

• 대한핵의학회:학술대회논문집
• /
• 2004.11a
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• pp.412.1-412.1
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• 2004

• 대한핵의학회:학술대회논문집
• /
• 1999.11a
• /
• pp.39.1-39.1
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• 1999

• Proceedings of the KSMRM Conference
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• 1996.10a
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• pp.23-23
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• 1996