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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...

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Dades bibliogràfiques
Publicat a:Ann Rehabil Med
Autors principals: Moon, Jae-Gun, Shin, Min-A, Pyo, Hannah, Choi, Seong-Uk, Kim, Hyun-Kyung
Format: Artigo
Idioma:Inglês
Publicat: Korean Academy of Rehabilitation Medicine 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5698679/
https://ncbi.nlm.nih.gov/pubmed/29201831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2017.41.5.892
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