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• ReviewVolume 12, Issue 15pp 15856-15874

  Pompe disease: pathogenesis, molecular genetics and diagnosis

  Relevance score: 0.00

  Simona Taverna, Giuseppe Cammarata, Paolo Colomba, Serafina Sciarrino, Carmela Zizzo, Daniele Francofonte, Marco Zora, Simone Scalia, Chiara Brando, Alessia Lo Curto, Emanuela Maria Marsana, Roberta Olivieri, Silvia Vitale, Giovanni Duro

  Keywords: Pompe disease, acid alpha-1,4-glucosidase, lysosomal storage disorder, glycogen, GAA

  Published in Aging on August 3, 2020

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• Research PaperVolume 12, Issue 5pp 4268-4282

  GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease

  Relevance score: 0.00

  Xiaodong Jia, Libin Shao, Chengcheng Liu, Tuanzhi Chen, Ling Peng, Yinguang Cao, Chuanchen Zhang, Xiafeng Yang, Guifeng Zhang, Jianlu Gao, Guangyi Fan, Mingliang Gu, Hongli Du, Zhangyong Xia

  Keywords: Pompe disease, cerebral infarction, GAA mutation, gut microbiome metagenomics

  Published in Aging on March 3, 2020

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