- A Case of Niemann Pick Disease
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Kim SH, Choi YJ, Kim IH, Kim SW
- KMID: 1699058
- J Korean Pediatr Soc.
- 1983 Oct;26(10):1039-1043.
No abstract available. -
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- Stem Cells and Niemann Pick Disease
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Andolina M
- KMID: 2054557
- Int J Stem Cells.
- 2014 May;7(1):30-32.
BACKGROUND AND OBJECTIVES: Niemann Pick A disease causes a progressive accumulation of sphyngomyelin in several organs and the survival of the patients is usually limited to three years. We describe... -
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- A Case of Niemann-Pick Disease with Sea-Blue histiocytes in the Bone Marrow
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Kim YS, Lim SH, Seo JK, Ahn HS, Moon HR
- KMID: 1676446
- J Korean Pediatr Soc.
- 1985 Dec;28(12):1238-1244.
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- A Case of Type A Niemann-Pick Disease
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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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- Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly
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Jeong MH, Ko JM, Kim GH, Yoo HW
- KMID: 2288524
- J Genet Med.
- 2007 Dec;4(2):200-203.
Niemann-Pick type C is an inborn error of metabolism that affects lipid degradation and storage, which is characterized by hepatosplenomegaly and progressive neurological symptoms. A 7-month-old girl with jaundice was... -
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- An Anesthetic Experience in a Patient with Niemann-Pick Disease: A case report
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Lee JH, Jung WS, Lee HY, Kim AR, Yoon HS, Go YK
- KMID: 2236583
- Korean J Anesthesiol.
- 2008 Jan;54(1):109-112.
- doi: 10.4097/kjae.2008.54.1.109
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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- Three-year Follow-up of Niemann-Pick Disease with Pulmonary Involvement: A Case Report
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Lee CW, Goo HW
- KMID: 1834217
- J Korean Radiol Soc.
- 2005 Jan;52(1):37-40.
- doi: 10.3348/jkrs.2005.52.1.37
Niemann-Pick disease is a rare inherited metabolic storage disease that causes excessive intracellular storage of sphingomyelin in various organs. We present the pulmonary imaging findings with particular emphasis on the... -
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- A case of Niemann-Pick disease type A
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Yu HY, Oh JE, Park JS, Kim MH, Kim SD, Jung KS
- KMID: 2278511
- Korean J Pediatr.
- 2006 Dec;49(12):1358-1362.
- doi: 10.3345/kjp.2006.49.12.1358
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
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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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- Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report
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Ko EJ, Sung IY, Yoo HW
- KMID: 2463709
- Ann Rehabil Med.
- 2019 Oct;43(5):621-624.
- doi: 10.5535/arm.2019.43.5.621
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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- In Vivo Assessment of Neurodegeneration in Type C Niemann-Pick Disease by IDEAL-IQ
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Guo RM, Li QL, Luo ZX, Tang W, Jiao J, Wang J, Kang Z, Chen SQ, Zhang Y
- KMID: 2425114
- Korean J Radiol.
- 2018 Feb;19(1):93-100.
- doi: 10.3348/kjr.2018.19.1.93
OBJECTIVE: To noninvasively assess the neurodegenerative changes in the brain of patients with Niemann-Pick type C (NPC) disease by measuring the lesion tissue with the iterative decomposition of water and... -
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