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Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

Neeraja K, Holla VV, Prasad S, Surisetti BK, Rakesh K, Kamble N, Yadav R, Pal PK

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red...
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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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A Case Refort of Sandhoff Disease

Yun YM, Lee SN

Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient...
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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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