Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease

Author:

Er Tze-Kiong,Chen Chih-Chieh,Chien Yin-Hsiu,Liang Wen-Chen,Kan Tzu-Min,Jong Yuh-Jyh

Funder

Kaohsiung Medical University Hospital

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference43 articles.

1. Pompe disease in infants and children;Kishnani;J Pediatr,2004

2. Genetic counseling in Pompe disease;Taglia;Acta Myol,2011

3. Juvenile and adult-onset acid maltase deficiency in France: genotype–phenotype correlation;Laforet;Neurology,2000

4. Pompe disease diagnosis and management guideline;Kishnani;Genet Med,2006

5. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan;Lin;Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi,1996

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