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Induced neural stem cells from human patient-derived fibroblasts attenuate neurodegeneration in Niemann-Pick type C mice

Hong S, Lee SE, Kang I, Yang J, Kim H, Kim J, Kang KS

Background: Niemann-Pick disease type C (NPC) is caused by the mutation of NPC genes, which leads to the abnormal accumulation of unesterified cholesterol and glycolipids in lysosomes. This autosomal recessive...
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Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

Ko EJ, Sung IY, Yoo HW

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a...
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Microglial involvement in the development of olfactory dysfunction

Seo Y, Kim HS, Kang KS

Olfactory impairment is the most common clinical manifestation among the elderly, and its prevalence increases sharply with age. Notably, growing evidence has shown that olfactory dysfunction is the first sign...
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Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Lee SY, Lee HJ, Kim SH, Jeong YJ, Jin HK, Bae JS, Cheon SM, Kim JW

Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1)...
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A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization

Cho YU, Chae JD, Lee WM, Woo JJ, Lee HB, Gong SJ, Park CJ, Kim GH, Yoo HW

Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative...
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An Anesthetic Experience in a Patient with Niemann-Pick Disease: A case report

Lee JH, Jung WS, Lee HY, Kim AR, Yoon HS, Go YK

Niemann-Pick disease (NPD) is an autosomal recessive, lipid storage disorder caused by the deficiency of the lysosomal enzyme sphingomyelinase or defective cholesterol transport from lysosome to cytosol. The clinical symptoms...
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A case of Niemann-Pick disease type A

Yu HY, Oh JE, Park JS, Kim MH, Kim SD, Jung KS

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea....
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Sphingolipidoses

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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A Case of Type A Niemann-Pick Disease

Jeon EY, Choi KA, Koo CH, Lee WM, Jeon YS, Lee CH, Suh KS, Lee SK

  • KMID: 2335319
  • J Korean Pediatr Soc.
  • 1998 Feb;41(2):275-280.
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a...
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