• 已选条件：
  • × GAA
 全选  【符合条件的数据共：11条】

1 Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants [期刊论文]

来源：Orphanet Journal of Rare Diseases , 2023

作者:Lock-Hock Ngu;Huey-Yin Leong;Mei-Yan Chan;等

关键词:Acid alpha-glucosidase;Enzyme replacement therapy;...

使用许可:CC BY

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2 Current status of newborn screening for Pompe disease in Japan [期刊论文]

来源：Orphanet Journal of Rare Diseases , 2021

作者:Takaaki Sawada;Keishin Sugawara;Jun Kido;等

关键词:Pompe disease;Newborn screening;...

使用许可:CC BY

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3 Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots [期刊论文]

来源：Journal of Clinical Medicine , 2021

作者:Bojana Rakic;Sébastien Lévesque;Serge Gravel;等

关键词:Pompe disease;gene panel sequencing;...

使用许可:Unknown

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4 Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand [期刊论文]

来源：BMC Medical Genetics , 2019

作者:Suthipong Pangkanon;Chulaluck Kuptanon;Phannee Sawangareetrakul;等

关键词:Lysosomal strorage disorder;Pompe disease;...

使用许可:CC BY

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5 Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center [期刊论文]

来源：Korean Journal of Pediatrics , 2019

作者:Hyung-Doo Park;Jinsup Kim;Aram Yang;等

关键词:Glycogen storage disease II;Alglucosidase alfa;...

使用许可:Unknown

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6 What do coaches want to know about sports-related concussion? A needs assessment study [期刊论文]

来源：Journal of Sport and Health Science , 2018

作者:Michal Molcho, Lindsay Sullivan

关键词:Coaches;Concussion;...

使用许可:Unknown

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