Publications:

---

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: 1356delC; Ser454Alafs*23

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

International Journal Of Clinical And Experimental Pathology

Xu, Lingling L; Zhang, Lidan L; Zhong, Liangying L; Huang, Xueqiong X; Li, Suping S; Cheng, Yucai Y; Liang, Yujian Y; Pei, Yuxin Y; Huang, Huimin H; Tang, Wen W; Zhang, Cheng C

Publication Date: 2017

Variant appearance in text: GAA: 1356delC

PubMed Link: 31966564

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 1355del

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

View BVdb publication page

---

The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens

Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C

Publication Date: 2018-09

Variant appearance in text: GAA: 1355delC

PubMed Link: 30252911

Variant Present in the following documents:

• ppat.1007315.s003.xlsx, sheet 5

View BVdb publication page

---

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: 1355delC

PubMed Link: 25526786

Variant Present in the following documents:

• Main text
• 12881_2014_Article_141.pdf

View BVdb publication page

---

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: 1356delC; Ser454AlafsX23

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page

---