- A Case Refort of Sandhoff Disease
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Yun YM, Lee SN
- KMID: 1099088
- Korean J Ophthalmol.
- 2005 Mar;19(1):68-72.
- doi: 10.3341/kjo.2005.19.1.68
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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- An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty
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Moon JG, Shin MA, Pyo H, Choi SU, Kim HK
- KMID: 2440819
- Ann Rehabil Med.
- 2017 Oct;41(5):892-896.
- doi: 10.5535/arm.2017.41.5.892
Infants with Sandhoff disease typically appear normal until 3–6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to... -
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