Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: Identification of 6 novel mutations

Gene

Volumn 535, Issue 1, 2014, Pages 53-59

  Fu, Lijun ^a   Qiu, Wenjuan ^a   Yu, Yongguo ^a   Guo, Ying ^a   Zhao, Pengjun ^a   Zhang, Xu ^a   Liu, Chunxiao ^a   Li, Fen ^a   Huang, Huimin ^a   Huang, Meirong ^a   Chen, Shubao ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Acid glucosidase; Glycogen storage disease type II; Lysosomal storage disease; Mutation analysis; Pompe disease

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ALLELE; ARTICLE; CARDIOMEGALY; CHINESE; CLINICAL ARTICLE; CONGESTIVE HEART FAILURE; CONTROLLED STUDY; DISEASE COURSE; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; GENETIC VARIABILITY; GLUCAN 1,4 ALPHA GLUCOSIDASE GENE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOTOR RETARDATION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; ONSET AGE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY DISTRESS; RESPIRATORY TRACT INFECTION; SURVIVAL TIME; SYMPTOM ASSESSMENT;

EID: 84890247251     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.10.066     Document Type: Article

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