The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease-Reference-Cited by-同舟云学术

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The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease

Published:2020-01-31 Issue:1 Volume:61 Page:178-182
ISSN:1349-2365
Container-title:International Heart Journal
language:en
Short-container-title:Int. Heart J.

Author:

Li Jiaming¹,Cui Yinghua²,Wang Xin²,Wang Qinglei²,Wang Hongjun³,Yan Bo⁴

Affiliation:

1. Clinical Medical College, Jining Medical University

2. Department of Cardiology, Affiliated Hospital of Jining Medical University

3. Department of Ultrasound, Affiliated Hospital of Jining Medical University

4. Central Laboratory, Affiliated Hospital of Jining Medical University

Publisher

International Heart Journal (Japanese Heart Journal)

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Link

https://www.jstage.jst.go.jp/article/ihj/61/1/61_19-241/_pdf

Reference19 articles.

1. 1. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8: 267-88.

2. 2. Dasouki M, Jawdat O, Almadhoun O, et al. Pompe disease: Literature review and case series. Neurol Clin 2014; 32: 751-76.

3. 3. Martínez M, Romero MG, Guereta LG, et al. Infantile-onset Pompe disease with neonatal debut: A case report and literature review. Medicine 2017; 96: e9186.

4. 4. Liu Y, Yang Y, Wang B, et al. Infantile Pompe disease: A case report and review of the Chinese literature. Exp Ther Med 2016; 11: 235-8.

5. 5. Rairikar MV, Case LE, Bailey LA, et al. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.−32-13T>G "late-onset" GAA variant. Mol Genet Metab 2017; 122: 99-107.

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