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Nystagmus in infantile Pompe disease: a new feature?

We describe a 3 month-old female floppy infant with hypertrophic cardiomyopathy, serum enzyme levels, which were characterized by an aspartate aminotransferase level of 144 U/l, alanine transaminase 240 U/L and creatine kinase level of 543 U/l. On the basis of the clinical signs and laboratory resul...

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Detalles Bibliográficos
Autores principales:	Turco, Emanuela Claudia, Facini, Carlotta, Piccolo, Benedetta, Pisani, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Mattioli 1885 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716971/ https://www.ncbi.nlm.nih.gov/pubmed/32921779 http://dx.doi.org/10.23750/abm.v91i3.8366

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