Publications:

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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: 2432delT

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

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Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.

Molecular Genetics & Genomic Medicine

Cerón-Rodríguez, Magdalena M; Castillo-García, Daniela D; Acosta-Rodríguez-Bueno, Carlos-Patricio CP; Aguirre-Hernández, Jesús J; Murillo-Eliosa, Juan-Rafael JR; Valencia-Mayoral, Pedro P; Escobar-Sánchez, Argelia A; Salgado-Loza, Juan-Luis JL

Publication Date: 2022-07

Variant appearance in text: GAA: 2432delT; Leu811fsX37

PubMed Link: 35532199

Variant Present in the following documents:

• Main text
• MGG3-10-e1957.pdf

View BVdb publication page

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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg

Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2019-02

Variant appearance in text: GAA: 2432del

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

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Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Jimd Reports

Pena, Loren D M LD; Proia, Alan D AD; Kishnani, Priya S PS

Publication Date: 2015

Variant appearance in text: GAA: 2432delT; Leu811fsX37

PubMed Link: 25763511

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Orphanet Journal Of Rare Diseases

Sampaolo, Simone S; Esposito, Teresa T; Farina, Olimpia O; Formicola, Daniela D; Diodato, Daria D; Gianfrancesco, Fernando F; Cipullo, Federica F; Cremone, Gaetana G; Cirillo, Mario M; Del Viscovo, Luca L; Toscano, Antonio A; Angelini, Corrado C; Di Iorio, Giuseppe G

Publication Date: 2013-10-10

Variant appearance in text: N/A

PubMed Link: 24107549

Variant Present in the following documents:

View BVdb publication page

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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS

Publication Date: 2012-02-15

Variant appearance in text: GAA: 2432delT; Leu811ArgfsX37

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page

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