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Ho Yen Yu (Yu HY)

1 Article

Case Report

A case of Niemann-Pick disease type A

Ho Yen Yu, Ji Eun Oh, Jae Sun Park, Mi Hyang Kim, Sin Dong Kim, Kyung Soon Jung

Clin Exp Pediatr. 2006;49(12):1358-1362. Published online December 15, 2006

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. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic...

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