Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports

Peripheral blood GAA gene testing and alpha-glucosidase enzyme activity testing is an effective method for diagnosing this disease.

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Publication Details

Journal
Medicine
Published
2024-08-30
DOI
https://doi.org/10.1097/md.0000000000039534
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports

Yingqian Zhang, Qi Feng, Meng Zhang, Chun Xiao Ba
Medicine
Lysosomal Storage Disorders Research
article

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports

Yingqian Zhang, Qi Feng, Meng Zhang, Chun Xiao Ba
article en

Abstract

Peripheral blood GAA gene testing and alpha-glucosidase enzyme activity testing is an effective method for diagnosing this disease.

MedicineVol. 103(35)
Hebei Medical University (CN), Hebei North University (CN), Hospital of Hebei Province (CN)
Good health and well-being
Openalex Percentile: Top 81%
Lysosomal Storage Disorders Research
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