Publications:

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A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.

Frontiers In Pharmacology

Zhu, Diqi D; Zhu, Jiacong J; Qiu, Wenjuan W; Wang, Benzhen B; Liu, Lin L; Yu, Xiaodan X; Ou, Zhenheng Z; Shan, Guangsong G; Wang, Jian J; Li, Bin B; Chen, Xiaokang X; Liu, Cong C; Li, Zipu Z; Fu, Lijun L

Publication Date: 2022

Variant appearance in text: GAA: 1562A>T; Glu521Val

PubMed Link: 35833019

Variant Present in the following documents:

• Main text
• fphar-13-903488.pdf

View BVdb publication page

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Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: GAA: 1562A>T; Glu521Val

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: GAA: E521V

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: GAA: E521V

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Current status of newborn screening for Pompe disease in Japan.

Orphanet Journal Of Rare Diseases

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Momosaki, Ken K; Yoshida, Shinichiro S; Kojima-Ishii, Kanako K; Inoue, Takahito T; Matsumoto, Shirou S; Endo, Fumio F; Ohga, Shouichi S; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2021-12-18

Variant appearance in text: GAA: E521V

PubMed Link: 34922579

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2146.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GAA: 1562A>T; Glu521Val; rs1455277014

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

Life (Basel, Switzerland)

Gal, Aniko A; Grosz, Zoltán Z; Borsos, Beata B; Szatmari, Ildikó I; Sebők, Agnes A; Jávor, Laszló L; Harmath, Veronika V; Szakszon, Katalin K; Dezsi, Livia L; Balku, Eniko E; Jobbagy, Zita Z; Herczegfalvi, Agnes A; Almássy, Zsuzsanna Z; Kerényi, Levente L; Molnar, Maria Judit MJ

Publication Date: 2021-05-31

Variant appearance in text: GAA: 1562A>T; Glu521Val; rs1455277014

PubMed Link: 34072668

Variant Present in the following documents:

• Main text
• life-11-00507.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: E521V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: GAA: E521V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Infantile Pompe disease: A case report and review of the Chinese literature.

Experimental And Therapeutic Medicine

Liu, Yun Y; Yang, Yang Y; Wang, Beibei B; Wu, Lizhi L; Liang, Honglu H; Kan, Qing Q; Cao, Zhaolan Z; Zhao, Youyan Y; Zhou, Xiaoyu X

Publication Date: 2016-01

Variant appearance in text: GAA: E521V

PubMed Link: 26889246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Bmc Medical Genetics

Liu, Xiao X; Wang, Zhaoxia Z; Jin, Weina W; Lv, He H; Zhang, Wei W; Que, Chengli C; Huang, Yu Y; Yuan, Yun Y

Publication Date: 2014-12-20

Variant appearance in text: GAA: 1562A>T; Glu521Val

PubMed Link: 25526786

Variant Present in the following documents:

• Main text
• 12881_2014_Article_141.pdf

View BVdb publication page

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