p.D645E of Acid α-Glucosidase Is the Most Common Mutation in Thai Patients with Infantile-Onset Pompe Disease-Reference-Cited by-同舟云学术

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p.D645E of Acid α-Glucosidase Is the Most Common Mutation in Thai Patients with Infantile-Onset Pompe Disease

Published:2010-12 Issue:6 Volume:14 Page:835-837
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Amarinthnukrowh Pramuk¹²,Tongkobpetch Siraprapa¹²,Kongpatanayothin Apichai³,Suphapeetiporn Kanya¹²,Shotelersuk Vorasuk¹²

Affiliation:

1. Center of Excellence for Medical Genetics, Bangkok, Thailand.

2. Molecular Genetics Diagnostic Center, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

3. Division of Cardiology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0038

Reference9 articles.

1. The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

2. Characterization of the human lysosomal α-glucosidase gene

3. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

4. Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization

Cited by 11 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. Pompe disease in China: clinical and molecular characteristics;Frontiers in Cardiovascular Medicine;2023-12-14

2. CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease;Scientific Reports;2022-12-14

3. CRISPR-Mediated Generation and Characterization of a Gaa Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease;2022-05-30

4. Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families;Journal of Pediatric Endocrinology and Metabolism;2020-04-28

5. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand;BMC Medical Genetics;2019-09-11

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