Detection of a homozygous D645E mutation of the acidα-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II-Reference-Cited by-同舟云学术

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Detection of a homozygous D645E mutation of the acidα-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II

Published:2004-03 Issue:3 Volume:24 Page:231-232
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Chen Chih-Ping,Lin Shuan-Pei,Tzen Chin-Yuan,Tsai Fuu-Jen,Hwu Wuh-Liang,Wang Wayseen

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease;Molecular Therapy - Methods & Clinical Development;2019-03

2. Advances in imaging of brain abnormalities in neuromuscular disease;Therapeutic Advances in Neurological Disorders;2019-01

3. Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease;Acta Neuropathologica Communications;2017-09-06

4. Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?;JIMD Reports;2017

5. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy;Journal of Child Neurology;2016-09-29

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