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An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty
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 loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with...
Autores principales: | Moon, Jae-Gun, Shin, Min-A, Pyo, Hannah, Choi, Seong-Uk, Kim, Hyun-Kyung |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Academy of Rehabilitation Medicine
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698679/ https://www.ncbi.nlm.nih.gov/pubmed/29201831 http://dx.doi.org/10.5535/arm.2017.41.5.892 |
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