Publications:

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Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Current Issues In Molecular Biology

De Filippi, Paola P; Errichiello, Edoardo E; Toscano, Antonio A; Mongini, Tiziana T; Moggio, Maurizio M; Ravaglia, Sabrina S; Filosto, Massimiliano M; Servidei, Serenella S; Musumeci, Olimpia O; Giannini, Fabio F; Piperno, Alberto A; Siciliano, Gabriele G; Ricci, Giulia G; Di Muzio, Antonio A; Rigoldi, Miriam M; Tonin, Paola P; Croce, Michele Giovanni MG; Pegoraro, Elena E; Politano, Luisa L; Maggi, Lorenzo L; Telese, Roberta R; Lerario, Alberto A; Sancricca, Cristina C; Vercelli, Liliana L; Semplicini, Claudio C; Pasanisi, Barbara B; Bembi, Bruno B; Dardis, Andrea A; Palmieri, Ilaria I; Cereda, Cristina C; Valente, Enza Maria EM; Danesino, Cesare C

Publication Date: 2023-04-01

Variant appearance in text: GAA: 2237G>A

PubMed Link: 37185710

Variant Present in the following documents:

• Main text
• cimb-45-00186.pdf

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Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease).

Animals : An Open Access Journal From Mdpi

Rakib, Tofazzal Md TM; Islam, Md Shafiqul MS; Tanaka, Shigeki S; Yabuki, Akira A; Pervin, Shahnaj S; Maki, Shinichiro S; Faruq, Abdullah Al AA; Tacharina, Martia Rani MR; Yamato, Osamu O

Publication Date: 2023-04-13

Variant appearance in text: GAA: 2237G>A; W746*

PubMed Link: 37106898

Variant Present in the following documents:

• Main text
• animals-13-01336.pdf

View BVdb publication page

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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: 2237G>A; Trp746Ter

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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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: Trp746*

PubMed Link: 36310651

Variant Present in the following documents:

• main.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: 2237G>A; Trp746*

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.

Frontiers In Cell And Developmental Biology

Ravaglia, Sabrina S; de Giuseppe, Rachele R; Carlucci, Annalisa A; Jehne, Susan S; Crescimanno, Grazia G; Ahmad, Lara L; Paoletti, Matteo M; Clemente, Gabriele G; Pichiecchio, Anna A; Bazzano, Rosella R; Cirio, Serena S; Valente, Enza Maria EM; Danesino, Cesare C; De Filippi, Paola P; Tartara, Alice A; Cena, Hellas H

Publication Date: 2022

Variant appearance in text: GAA: 2237G>A

PubMed Link: 35252175

Variant Present in the following documents:

• Main text
• fcell-10-793566.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: 2237G>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: 2237G>A

PubMed Link: 35071497

Variant Present in the following documents:

• Main text
• atm-09-24-1803-supplementary.pdf
• atm-09-24-1803.pdf

View BVdb publication page

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Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.

Embo Molecular Medicine

Tarallo, Antonietta A; Damiano, Carla C; Strollo, Sandra S; Minopoli, Nadia N; Indrieri, Alessia A; Polishchuk, Elena E; Zappa, Francesca F; Nusco, Edoardo E; Fecarotta, Simona S; Porto, Caterina C; Coletta, Marcella M; Iacono, Roberta R; Moracci, Marco M; Polishchuk, Roman R; Medina, Diego Luis DL; Imbimbo, Paola P; Monti, Daria Maria DM; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G

Publication Date: 2021-11-08

Variant appearance in text: GAA: 2237G>A; W746X

PubMed Link: 34606154

Variant Present in the following documents:

• Main text
• EMMM-13-e14434.pdf

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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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: 2237G>A; Trp746Ter; rs752921215

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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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2021-05

Variant appearance in text: GAA: 2237G>A

PubMed Link: 33495531

Variant Present in the following documents:

• Main text
• nihms-1680101.pdf

View BVdb publication page

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Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.

International Journal Of Molecular Sciences

Almodóvar-Payá, Aitana A; Villarreal-Salazar, Mónica M; de Luna, Noemí N; Nogales-Gadea, Gisela G; Real-Martínez, Alberto A; Andreu, Antoni L AL; Martín, Miguel Angel MA; Arenas, Joaquin J; Lucia, Alejandro A; Vissing, John J; Krag, Thomas T; Pinós, Tomàs T

Publication Date: 2020-12-17

Variant appearance in text: GAA: 2237G>A; W746X

PubMed Link: 33348688

Variant Present in the following documents:

• Main text

View BVdb publication page

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Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.

Nature Communications

Carlson-Stevermer, Jared J; Das, Amritava A; Abdeen, Amr A AA; Fiflis, David D; Grindel, Benjamin I BI; Saxena, Shivani S; Akcan, Tugce T; Alam, Tausif T; Kletzien, Heidi H; Kohlenberg, Lucille L; Goedland, Madelyn M; Dombroe, Micah J MJ; Saha, Krishanu K

Publication Date: 2020-12-08

Variant appearance in text: N/A

PubMed Link: 33293555

Variant Present in the following documents:

View BVdb publication page

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Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Turkish Journal Of Medical Sciences

Tuğ Bozdoğan, Sevcan S; Büyükkurt, Selim S; Özer, Sinem S; Bişgin, Atıl A

Publication Date: 2021-04-30

Variant appearance in text: GAA: 2237G>A; W746*

PubMed Link: 33197157

Variant Present in the following documents:

• turkjmedsci-51-657-sup001.pdf
• turkjmedsci-51-657.pdf

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: W746X

PubMed Link: 33072983

Variant Present in the following documents:

• Main text
• IJNS-05-00024.pdf

View BVdb publication page

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Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.

Frontiers In Immunology

Desai, Ankit K AK; Baloh, Carolyn H CH; Sleasman, John W JW; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2020

Variant appearance in text: GAA: 2237G>A

PubMed Link: 32849613

Variant Present in the following documents:

• Main text

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: 2237G>A

PubMed Link: 32745073

Variant Present in the following documents:

• Main text
• aging-12-103794.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: 2237G>A; Trp746*; rs752921215

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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Companion animal models of neurological disease.

Journal Of Neuroscience Methods

Partridge, Brittanie B; Rossmeisl, John H JH

Publication Date: 2020-02-01

Variant appearance in text: GAA: 2237G>A

PubMed Link: 31733285

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.

Annals Of Translational Medicine

Byrne, Barry J BJ; Fuller, David D DD; Smith, Barbara K BK; Clement, Nathalie N; Coleman, Kirsten K; Cleaver, Brian B; Vaught, Lauren L; Falk, Darin J DJ; McCall, Angela A; Corti, Manuela M

Publication Date: 2019-07

Variant appearance in text: GAA: 2237G>A; W746*

PubMed Link: 31392202

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine

Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2019-07

Variant appearance in text: GAA: 2237G>A

PubMed Link: 31392197

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: 2237G>A; Trp746Ter

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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Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature.

Neurology International

Corrado, Bruno B; Ciardi, Gianluca G; Iammarrone, Clemente Servodio CS

Publication Date: 2019-06-18

Variant appearance in text: GAA: 2237G>A

PubMed Link: 31281600

Variant Present in the following documents:

• Main text

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: 2237G>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: 2237G>A; Trp746X

PubMed Link: 31193175

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies.

Chinese Medical Journal

Lyu, Jing-Wei JW; Xu, Xue-Bi XB; Ji, Kun-Qian KQ; Zhang, Na N; Sun, Yuan Y; Zhao, Dan-Dan DD; Zhao, Yu-Ying YY; Yan, Chuan-Zhu CZ

Publication Date: 2019-04-05

Variant appearance in text: GAA: 2237G>A

PubMed Link: 30897595

Variant Present in the following documents:

• cm9-132-805.pdf

View BVdb publication page

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Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.

Pflugers Archiv : European Journal Of Physiology

Eschenhagen, Thomas T; Carrier, Lucie L

Publication Date: 2019-05

Variant appearance in text: GAA: 2237G>A

PubMed Link: 30324321

Variant Present in the following documents:

• Main text
• 424_2018_Article_2214.pdf

View BVdb publication page

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Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Chinese Medical Journal

Liu, Hua-Xu HX; Pu, Chuan-Qiang CQ; Shi, Qiang Q; Zhang, Yu-Tong YT; Ban, Rui R

Publication Date: 2018-02-20

Variant appearance in text: GAA: 2237G>A; W746X

PubMed Link: 29451150

Variant Present in the following documents:

• CMJ-131-448.pdf

View BVdb publication page

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism

Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS

Publication Date: 2017-12

Variant appearance in text: GAA: 2237G>A; Trp746*

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

View BVdb publication page

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Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.

Medicine

Hwang, Hsuen-En HE; Hsu, Ting-Rong TR; Lee, Yueh-Hui YH; Wang, Hsin-Kai HK; Chiou, Hong-Jen HJ; Niu, Dau-Ming DM

Publication Date: 2017-11

Variant appearance in text: GAA: 2237G>A; W746X

PubMed Link: 29095275

Variant Present in the following documents:

• medi-96-e8415.pdf

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: GAA: W746X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 8

View BVdb publication page

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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.

Molecular Genetics And Metabolism Reports

Bravo, Heydy H; Neto, Eurico Camargo EC; Schulte, Jaqueline J; Pereira, Jamile J; Filho, Claudio Sampaio CS; Bittencourt, Fernanda F; Sebastião, Fernanda F; Bender, Fernanda F; de Magalhães, Ana Paula Scholz APS; Guidobono, Régis R; Trapp, Franciele Barbosa FB; Michelin-Tirelli, Kristiane K; Souza, Carolina F M CFM; Rojas Málaga, Diana D; Pasqualim, Gabriela G; Brusius-Facchin, Ana Carolina AC; Giugliani, Roberto R

Publication Date: 2017-09

Variant appearance in text: GAA: Trp746Ter

PubMed Link: 28721335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: GAA: TRP746TER

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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: W746*

PubMed Link: 26889246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Molecular Genetics And Metabolism Reports

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Rehder, Catherine C; Kazi, Zoheb B ZB; Berrier, Kathryn L KL; Dai, Jian J; Kishnani, Priya S PS

Publication Date: 2015-12-01

Variant appearance in text: GAA: Trp746X

PubMed Link: 26693141

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Preclinical Development of New Therapy for Glycogen Storage Diseases.

Current Gene Therapy

Sun, Baodong B; Brooks, Elizabeth D ED; Koeberl, Dwight D DD

Publication Date: 2015

Variant appearance in text: GAA: 2237G>A; W746*

PubMed Link: 26122079

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: 2237G>A

PubMed Link: 25526786

Variant Present in the following documents:

• Main text
• 12881_2014_Article_141.pdf

View BVdb publication page

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Genotype-phenotype correlation in Pompe disease, a step forward.

Orphanet Journal Of Rare Diseases

De Filippi, Paola P; Saeidi, Kolsoum K; Ravaglia, Sabrina S; Dardis, Andrea A; Angelini, Corrado C; Mongini, Tiziana T; Morandi, Lucia L; Moggio, Maurizio M; Di Muzio, Antonio A; Filosto, Massimiliano M; Bembi, Bruno B; Giannini, Fabio F; Marrosu, Giovanni G; Rigoldi, Miriam M; Tonin, Paola P; Servidei, Serenella S; Siciliano, Gabriele G; Carlucci, Annalisa A; Scotti, Claudia C; Comelli, Mario M; Toscano, Antonio A; Danesino, Cesare C

Publication Date: 2014-08-08

Variant appearance in text: GAA: 2237G>A

PubMed Link: 25103075

Variant Present in the following documents:

• Main text
• 13023_2014_Article_102.pdf

View BVdb publication page

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A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

Plos One

Seppälä, Eija H EH; Reuser, Arnold J J AJ; Lohi, Hannes H

Publication Date: 2013

Variant appearance in text: GAA: 2237G>A; W746*

PubMed Link: 23457621

Variant Present in the following documents:

• Main text
• pone.0056825.pdf

View BVdb publication page

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases

Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E

Publication Date: 2012-06-07

Variant appearance in text: GAA: 2237G>A; Trp746X

PubMed Link: 22676651

Variant Present in the following documents:

• Main text
• 1750-1172-7-35.pdf

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: 2237G>A; Trp746X

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page

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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Messinger, Yoav H YH; Mendelsohn, Nancy J NJ; Rhead, William W; Dimmock, David D; Hershkovitz, Eli E; Champion, Michael M; Jones, Simon A SA; Olson, Rebecca R; White, Amy A; Wells, Cara C; Bali, Deeksha D; Case, Laura E LE; Young, Sarah P SP; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2012-01

Variant appearance in text: GAA: 2237G>A

PubMed Link: 22237443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics of late onset glycogen storage disease II in Italy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Pittis, M G MG; Filocamo, M M

Publication Date: 2007-07

Variant appearance in text: GAA: 2237G>A; W746X

PubMed Link: 17915575

Variant Present in the following documents:

• Main text

View BVdb publication page

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