Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Induced pluripotent stem cell for modeling Pompe disease.

Frontiers In Cardiovascular Medicine

Huang, Wenjun W; Zhang, Yanmin Y; Zhou, Rui R

Publication Date: 2022

Variant appearance in text: GAA: 1935C>A

PubMed Link: 36620633

Variant Present in the following documents:

• Main text
• fcvm-09-1061384.pdf

View BVdb publication page

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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

Kan, Shih-Hsin SH; Huang, Jeffrey Y JY; Harb, Jerry J; Rha, Allisandra A; Dalton, Nancy D ND; Christensen, Chloe C; Chan, Yunghang Y; Davis-Turak, Jeremy J; Neumann, Jonathan J; Wang, Raymond Y RY

Publication Date: 2022-12-14

Variant appearance in text: GAA: 1935C>A; D645E

PubMed Link: 36517654

Variant Present in the following documents:

• Main text
• 41598_2022_Article_25914.pdf

View BVdb publication page

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Molecular Genetics And Metabolism Reports

Gragnaniello, Vincenza V; Pijnappel, Pim W W M PWWM; Burlina, Alessandro P AP; In 't Groen, Stijn L M SLM; Gueraldi, Daniela D; Cazzorla, Chiara C; Maines, Evelina E; Polo, Giulia G; Salviati, Leonardo L; Di Salvo, Giovanni G; Burlina, Alberto B AB

Publication Date: 2022-12

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 36310651

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Frontiers In Genetics

Dong, Rui R; Wei, Xuxia X; Zhang, Kaihui K; Song, Fengling F; Lv, Yuqiang Y; Gao, Min M; Wang, Dong D; Ma, Jian J; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2022

Variant appearance in text: GAA: Asp645Glu

PubMed Link: 36105079

Variant Present in the following documents:

• Main text
• fgene-13-932760.pdf

View BVdb publication page

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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: 1935C>A; Asp645Glu

PubMed Link: 35833019

Variant Present in the following documents:

• Main text
• fphar-13-903488.pdf

View BVdb publication page

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Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report.

Cns Neuroscience & Therapeutics

Si, Xiaoli X; Zhang, Ruoxia R; Yan, Shengqiang S; Zhao, Guohua G; Yin, Xinzhen X; Zhang, Baorong B

Publication Date: 2022-10

Variant appearance in text: GAA: 1935C>A

PubMed Link: 35795986

Variant Present in the following documents:

• Main text
• CNS-28-1651.pdf

View BVdb publication page

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Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine

Sakaguchi, Narumi N; Suyama, Mikita M

Publication Date: 2022-03-18

Variant appearance in text: GAA: ASP645GLU; rs28940868

PubMed Link: 35304488

Variant Present in the following documents:

• 41525_2022_294_MOESM1_ESM.pdf

View BVdb publication page

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Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.

Bmj Case Reports

Senarathne, Udara Dilrukshi UD; Jasinge, Eresha E; Viknarajah Mohan, Sarojini S; Waidyanatha, Samantha S

Publication Date: 2022-03-09

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 35264382

Variant Present in the following documents:

• Main text
• bcr-2021-247312.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GAA: 1935C>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Annals Of Translational Medicine

Zhao, Hui-Hui HH; Ma, Zhi Z; Ying, Zi-Xuan ZX; Niu, Feng-Nan FN; Luo, Mao-Tao MT; Wang, Zheng Z; Cheng, Xi X; Zhang, Qian-Qian QQ; Niu, Qi Q

Publication Date: 2021-12

Variant appearance in text: GAA: 1935C>A; D645E

PubMed Link: 35071497

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function.

Frontiers In Pediatrics

Liu, Meng-Chen MC; Wang, Ming-Tse MT; Chen, Philip Kuo-Ting PK; Niu, Dau-Ming DM; Fan Chiang, Yu-Hsuan YH; Hsieh, Ming-Hui MH; Tsai, Hsiao-Chien HC

Publication Date: 2021

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 34966699

Variant Present in the following documents:

• Main text

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: D645E; rs28940868

PubMed Link: 34922579

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2146.pdf

View BVdb publication page

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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2021-11-29

Variant appearance in text: GAA: D645E

PubMed Link: 34885805

Variant Present in the following documents:

• Main text
• molecules-26-07223.pdf

View BVdb publication page

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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2021-11-29

Variant appearance in text: GAA: D645E

PubMed Link: 34885805

Variant Present in the following documents:

• Main text
• molecules-26-07223.pdf

View BVdb publication page

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Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.

International Journal Of Molecular Sciences

La Cognata, Valentina V; Guarnaccia, Maria M; Morello, Giovanna G; Ruggieri, Martino M; Polizzi, Agata A; Cavallaro, Sebastiano S

Publication Date: 2021-09-17

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 34576242

Variant Present in the following documents:

• Main text
• ijms-22-10064.pdf

View BVdb publication page

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Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Human Mutation

Niño, Monica Y MY; In't Groen, Stijn L M SLM; de Faria, Douglas O S DOS; Hoogeveen-Westerveld, Marianne M; van den Hout, Hannerieke J M P HJMP; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-11

Variant appearance in text: GAA: Asp645Glu

PubMed Link: 34405923

Variant Present in the following documents:

• Main text
• HUMU-42-1461.pdf
• HUMU-42-1461-s001.pdf

View BVdb publication page

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Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)

Park, Kyung-Sun KS

Publication Date: 2021-07-16

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 34356580

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.

Orphanet Journal Of Rare Diseases

Hsueh, Chien-Yu CY; Huang, Chii-Yuan CY; Yang, Chia-Feng CF; Chang, Chia-Chen CC; Lin, Wei-Sheng WS; Cheng, Hsiu-Lien HL; Wu, Shang-Liang SL; Cheng, Yen-Fu YF; Niu, Dau-Ming DM

Publication Date: 2021-08-05

Variant appearance in text:

PubMed Link: 34353347

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1817.pdf

View BVdb publication page

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Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Frontiers In Immunology

De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS

Publication Date: 2021

Variant appearance in text: GAA: 1935C>A

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.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: 1935C>A; Asp645Glu; rs28940868

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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Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Orphanet Journal Of Rare Diseases

Hernández-Arévalo, Paula P; Santotoribio, José D JD; Delarosa-Rodríguez, Rocío R; González-Meneses, Antonio A; García-Morillo, Salvador S; Jiménez-Arriscado, Pilar P; Guerrero, Juan M JM; Macher, Hada C HC

Publication Date: 2021-05-21

Variant appearance in text: GAA: 1935C>A

PubMed Link: 34020684

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1864.pdf

View BVdb publication page

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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 33717985

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.

Npj Genomic Medicine

Wei, Chun-Yu CY; Yang, Jenn-Hwai JH; Yeh, Erh-Chan EC; Tsai, Ming-Fang MF; Kao, Hsiao-Jung HJ; Lo, Chen-Zen CZ; Chang, Lung-Pao LP; Lin, Wan-Jia WJ; Hsieh, Feng-Jen FJ; Belsare, Saurabh S; Bhaskar, Anand A; Su, Ming-Wei MW; Lee, Te-Chang TC; Lin, Yi-Ling YL; Liu, Fu-Tong FT; Shen, Chen-Yang CY; Li, Ling-Hui LH; Chen, Chien-Hsiun CH; Wall, Jeffrey D JD; Wu, Jer-Yuarn JY; Kwok, Pui-Yan PY

Publication Date: 2021-02-11

Variant appearance in text: rs28940868

PubMed Link: 33574314

Variant Present in the following documents:

• Main text

View BVdb publication page

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Advances in diagnosis and management of Pompe disease.

Journal Of Mother And Child

Davison, James E JE

Publication Date: 2020-10-02

Variant appearance in text: GAA: Asp645Glu

PubMed Link: 33554498

Variant Present in the following documents:

• Main text
• jmotherandchild-24-003.pdf

View BVdb publication page

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Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.

Frontiers In Pediatrics

Ying, Shen S; Zhihua, Zhang Z; Yucan, Zheng Z; Yu, Jin J; Qian, Lin L; Bixia, Zheng Z; Weixia, Cheng C; Zhifeng, Liu L

Publication Date: 2020

Variant appearance in text: GAA: 1935C>A

PubMed Link: 33344388

Variant Present in the following documents:

• Main text
• fped-08-600446.pdf

View BVdb publication page

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Newborn Screening for Pompe Disease.

International Journal Of Neonatal Screening

Sawada, Takaaki T; Kido, Jun J; Nakamura, Kimitoshi K

Publication Date: 2020-06

Variant appearance in text: GAA: 1935C>A; D645E

PubMed Link: 33073027

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan.

International Journal Of Neonatal Screening

Chiang, Shu-Chuan SC; Chien, Yin-Hsiu YH; Chang, Kai-Ling KL; Lee, Ni-Chung NC; Hwu, Wuh-Liang WL

Publication Date: 2020-06

Variant appearance in text: GAA: Asp645Glu

PubMed Link: 33073026

Variant Present in the following documents:

• Main text

View BVdb publication page

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The First Year Experience of Newborn Screening for Pompe Disease in California.

International Journal Of Neonatal Screening

Tang, Hao H; Feuchtbaum, Lisa L; Sciortino, Stanley S; Matteson, Jamie J; Mathur, Deepika D; Bishop, Tracey T; Olney, Richard S RS

Publication Date: 2020-03

Variant appearance in text: GAA: 1935C>A

PubMed Link: 33073007

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

International Journal Of Neonatal Screening

Burlina, Alberto B AB; Polo, Giulia G; Rubert, Laura L; Gueraldi, Daniela D; Cazzorla, Chiara C; Duro, Giovanni G; Salviati, Leonardo L; Burlina, Alessandro P AP

Publication Date: 2019-06

Variant appearance in text: GAA: D645E

PubMed Link: 33072983

Variant Present in the following documents:

• Main text
• IJNS-05-00024.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: D645E

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Pompe disease: pathogenesis, molecular genetics and diagnosis.

Aging

Taverna, Simona S; Cammarata, Giuseppe G; Colomba, Paolo P; Sciarrino, Serafina S; Zizzo, Carmela C; Francofonte, Daniele D; Zora, Marco M; Scalia, Simone S; Brando, Chiara C; Curto, Alessia Lo AL; Marsana, Emanuela Maria EM; Olivieri, Roberta R; Vitale, Silvia S; Duro, Giovanni G

Publication Date: 2020-08-03

Variant appearance in text: GAA: 1935C>A

PubMed Link: 32745073

Variant Present in the following documents:

• Main text
• aging-12-103794.pdf

View BVdb publication page

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Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.

Molecular Genetics And Metabolism Reports

Chien, Yin-Hsiu YH; Tsai, Wen-Hui WH; Chang, Chaw-Liang CL; Chiu, Pao-Chin PC; Chou, Yen-Yin YY; Tsai, Fuu-Jen FJ; Wong, Siew-Lee SL; Lee, Ni-Chung NC; Hwu, Wuh-Liang WL

Publication Date: 2020-06

Variant appearance in text: GAA: D645E

PubMed Link: 32373469

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: GAA: 1935C>A; Asp645Glu; rs28940868

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Orphanet Journal Of Rare Diseases

Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chen, Pin-Wen PW; Yeh, Hui-Ying HY; Gelb, Michael H MH; Chiu, Pao-Chin PC; Chu, Shao-Yin SY; Lee, Chen-Hao CH; Lee, An-Ru AR; Hwu, Wuh-Liang WL

Publication Date: 2020-02-03

Variant appearance in text: GAA: D645E

PubMed Link: 32014045

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1322.pdf

View BVdb publication page

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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: GAA: 1935C>A; D645E

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.pdf

View BVdb publication page

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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: 1935C>A; Asp645Glu

PubMed Link: 31966564

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine

Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L

Publication Date: 2020-02

Variant appearance in text: GAA: 1935C>A; D645E

PubMed Link: 31880409

Variant Present in the following documents:

• MGG3-8-e1053-s001.xlsx, sheet 1
• MGG3-8-e1053-s002.xlsx, sheet 1

View BVdb publication page

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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Bmc Medical Genetics

Ngiwsara, Lukana L; Wattanasirichaigoon, Duangrurdee D; Tim-Aroon, Thipwimol T; Rojnueangnit, Kitiwan K; Noojaroen, Saisuda S; Khongkraparn, Arthaporn A; Sawangareetrakul, Phannee P; Ketudat-Cairns, James R JR; Charoenwattanasatien, Ratana R; Champattanachai, Voraratt V; Kuptanon, Chulaluck C; Pangkanon, Suthipong S; Svasti, Jisnuson J

Publication Date: 2019-09-11

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 31510962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.

Italian Journal Of Pediatrics

Xu, Lingling L; Ba, Hongjun H; Pei, Yuxin Y; Huang, Xueqiong X; Liang, Yujian Y; Zhang, Lidan L; Huang, Huimin H; Zhang, Cheng C; Tang, Wen W

Publication Date: 2019-08-22

Variant appearance in text: GAA: 1935C>A

PubMed Link: 31439017

Variant Present in the following documents:

• Main text
• 13052_2019_Article_692.pdf

View BVdb publication page

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Molecular genetics of Pompe disease: a comprehensive overview.

Annals Of Translational Medicine

Peruzzo, Paolo P; Pavan, Eleonora E; Dardis, Andrea A

Publication Date: 2019-07

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 31392190

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Annals Of Translational Medicine

Alandy-Dy, Jousef J; Wencel, Marie M; Hall, Kathy K; Simon, Julie J; Chen, Yanjun Y; Valenti, Erik E; Yang, Jade J; Bali, Deeksha D; Lakatos, Anita A; Goyal, Namita N; Mozaffar, Tahseen T; Kimonis, Virginia V

Publication Date: 2019-07

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 31392188

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1935C>A; Asp645Glu

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

View BVdb publication page

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Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Human Mutation

Niño, Monica Y MY; In 't Groen, Stijn L M SLM; Bergsma, Atze J AJ; van der Beek, Nadine A M E NAME; Kroos, Marian M; Hoogeveen-Westerveld, Marianne M; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2019-11

Variant appearance in text: GAA: 1935C>A

PubMed Link: 31254424

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2019-09

Variant appearance in text: GAA: 1935C>A; Asp645Glu

PubMed Link: 31193175

Variant Present in the following documents:

• Main text

View BVdb publication page

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