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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

BACKGROUND: Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in Thailand...

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Detalles Bibliográficos
Autores principales:	Ngiwsara, Lukana, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Noojaroen, Saisuda, Khongkraparn, Arthaporn, Sawangareetrakul, Phannee, Ketudat-Cairns, James R., Charoenwattanasatien, Ratana, Champattanachai, Voraratt, Kuptanon, Chulaluck, Pangkanon, Suthipong, Svasti, Jisnuson
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737665/ https://www.ncbi.nlm.nih.gov/pubmed/31510962 http://dx.doi.org/10.1186/s12881-019-0878-8

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