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Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease

Our study aimed to evaluate the utility of muscle ultrasound in newborn screening of infantile-onset Pompe disease (IOPD) and to establish a system of severity grading. We retrospectively selected 35 patients with initial low acid alpha-glucosidase (GAA) activity and collected data including muscle...

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Detalles Bibliográficos
Autores principales:	Hwang, Hsuen-En, Hsu, Ting-Rong, Lee, Yueh-Hui, Wang, Hsin-Kai, Chiou, Hong-Jen, Niu, Dau-Ming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2017
Materias:	6800
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682794/ https://www.ncbi.nlm.nih.gov/pubmed/29095275 http://dx.doi.org/10.1097/MD.0000000000008415

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