Publications:

---

HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GAA: 1933G>A

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Frontiers In Genetics

Cesar, Sergi S; Coll, Monica M; Fiol, Victoria V; Fernandez-Falgueras, Anna A; Cruzalegui, Jose J; Iglesias, Anna A; Moll, Isaac I; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Puigmulè, Marta M; Alcalde, Mireia M; Lopez, Laura L; Pico, Ferran F; Berrueco, Rubén R; Brugada, Josep J; Zschaeck, Irene I; Natera-de Benito, Daniel D; Carrera-García, Laura L; Exposito-Escudero, Jessica J; Ortez, Carlos C; Nascimento, Andrés A; Brugada, Ramon R; Sarquella-Brugada, Georgia G; Campuzano, Oscar O

Publication Date: 2023

Variant appearance in text: GAA: 1933G>A; Asp645Asn; rs368438393

PubMed Link: 37035729

Variant Present in the following documents:

• Main text
• fgene-14-1135438.pdf

View BVdb publication page

---

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

World Journal Of Pediatrics : Wjp

Yang, Ru-Lai RL; Qian, Gu-Ling GL; Wu, Ding-Wen DW; Miao, Jing-Kun JK; Yang, Xue X; Wu, Ben-Qing BQ; Yan, Ya-Qiong YQ; Li, Hai-Bo HB; Mao, Xin-Mei XM; He, Jun J; Shen, Huan H; Zou, Hui H; Xue, Shu-Yuan SY; Li, Xiao-Ze XZ; Niu, Ting-Ting TT; Xiao, Rui R; Zhao, Zheng-Yan ZY

Publication Date: 2023-02-27

Variant appearance in text: GAA: 1933G>A

PubMed Link: 36847978

Variant Present in the following documents:

• 12519_2022_Article_670.pdf

View BVdb publication page

---

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: 1933G>A; Asp645Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: 1933G>A

PubMed Link: 36310651

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Frontiers In Genetics

Goomber, Shelly S; Huggins, Erin E; Rehder, Catherine W CW; Cohen, Jennifer L JL; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2022

Variant appearance in text: GAA: 1933G>A; Asp645Asn

PubMed Link: 36246652

Variant Present in the following documents:

• Main text
• fgene-13-1001154.pdf

View BVdb publication page

---

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: 1933G>A; Asp645Asn

PubMed Link: 36105079

Variant Present in the following documents:

• Main text
• fgene-13-932760.pdf

View BVdb publication page

---

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: 1933G>A; Asp645Asn

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

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: 1933G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases

van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME

Publication Date: 2022-02-02

Variant appearance in text: GAA: 1933G>A

PubMed Link: 35109913

Variant Present in the following documents:

• 13023_2022_Article_2175.pdf

View BVdb publication page

---

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases

van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME

Publication Date: 2022-02-02

Variant appearance in text: GAA: 1933G>A

PubMed Link: 35109913

Variant Present in the following documents:

• 13023_2022_Article_2175.pdf

View BVdb publication page

---

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: Asp645Asn

PubMed Link: 34405923

Variant Present in the following documents:

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

View BVdb publication page

---

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: D645N

PubMed Link: 34356580

Variant Present in the following documents:

• Main text
• children-08-00601.pdf

View BVdb publication page

---

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: 1933G>A

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

---

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: N/A

PubMed Link: 34078906

Variant Present in the following documents:

View BVdb publication page

---

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: GAA: D645N

PubMed Link: 33293555

Variant Present in the following documents:

• Main text
• 41467_2020_20065_MOESM1_ESM.pdf
• 41467_2020_Article_20065.pdf

View BVdb publication page

---

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics

Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC

Publication Date: 2020-11-02

Variant appearance in text: GAA: Asp645Asn

PubMed Link: 33138774

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1153.pdf

View BVdb publication page

---

K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: GAA: 1933G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

---

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: 1933G>A

PubMed Link: 33073007

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D645N

PubMed Link: 33072983

Variant Present in the following documents:

• Main text
• IJNS-05-00024.pdf

View BVdb publication page

---

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: D645N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: GAA: 1933G>A; D645N

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1

View BVdb publication page

---

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

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

Khan, Aleena A AA; Case, Laura E LE; Herbert, Mrudu M; DeArmey, Stephanie S; Jones, Harrison H; Crisp, Kelly K; Zimmerman, Kanecia K; ElMallah, Mai K MK; Young, Sarah P SP; Kishnani, Priya S PS

Publication Date: 2020-05

Variant appearance in text: GAA: 1933G>A

PubMed Link: 31904026

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Pediatric Pulmonology

ElMallah, Mai K MK; Desai, Ankit K AK; Nading, Erica B EB; DeArmey, Stephanie S; Kravitz, Richard M RM; Kishnani, Priya S PS

Publication Date: 2020-03

Variant appearance in text: GAA: 1933G>A

PubMed Link: 31899940

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Asp645Asn

PubMed Link: 31510962

Variant Present in the following documents:

• Main text
• 12881_2019_Article_878.pdf

View BVdb publication page

---

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: 1933G>A

PubMed Link: 31392197

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: 1933G>A; Asp645Asn

PubMed Link: 31342611

Variant Present in the following documents:

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

View BVdb publication page

---

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: 1933G>A

PubMed Link: 31254424

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1933G>A; Asp645Asn

PubMed Link: 31193175

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GAA: 1933G>A; Asp645Asn

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

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: 1933G>A

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Incidence of infantile Pompe disease in the Maroon population of French Guiana.

Bmj Paediatrics Open

Elenga, Narcisse N; Verloes, Alain A; Mrsic, Yajaira Y; Basurko, Célia C; Schaub, Roxane R; Cuadro-Alvarez, Emma E; Kom-Tchameni, Rémi R; Carles, Gabriel G; Lambert, Véronique V; Boukhari, Rachida R; Fahrasmane, Aniza A; Jolivet, Anne A; Nacher, Mathieu M; Benoist, Jean-François JF

Publication Date: 2018

Variant appearance in text: GAA: D645N

PubMed Link: 29637184

Variant Present in the following documents:

• bmjpo-2017-000182.pdf
• bmjpo-2017-000182.draft_revisions.pdf

View BVdb publication page

---

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

Journal Of Inherited Metabolic Disease

van der Meijden, Jan C JC; Kruijshaar, Michelle E ME; Harlaar, Laurike L; Rizopoulos, Dimitris D; van der Beek, Nadine A M E NAME; van der Ploeg, Ans T AT

Publication Date: 2018-11

Variant appearance in text: GAA: 1933G>A

PubMed Link: 29556838

Variant Present in the following documents:

• Main text
• 10545_2018_Article_166.pdf

View BVdb publication page

---

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Molecular Genetics And Metabolism

Desai, Ankit K AK; Walters, Crista K CK; Cope, Heidi L HL; Kazi, Zoheb B ZB; DeArmey, Stephanie M SM; Kishnani, Priya S PS

Publication Date: 2018-02

Variant appearance in text: GAA: 1933G>A

PubMed Link: 29289479

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs368438393

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: 1933G>A; Asp645Asn

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: N/A

PubMed Link: 28957316

Variant Present in the following documents:

View BVdb publication page

---

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy.

Chinese Medical Journal

Quan, Jun-Jun JJ; Liu, Ling-Juan LJ; Lyu, Tie-Wei TW; Huang, Xu-Pei XP; Tian, Jie J

Publication Date: 2017-10-05

Variant appearance in text: GAA: D645N

PubMed Link: 28937052

Variant Present in the following documents:

• CMJ-130-2393.pdf

View BVdb publication page

---

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: GAA: D645N

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Jimd Reports

Swift, Gyani G; Cleary, Maureen M; Grunewald, Stephanie S; Lozano, Sonia S; Ryan, Martina M; Davison, James J

Publication Date: 2017

Variant appearance in text: GAA: 1933G>A

PubMed Link: 27344650

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Orphanet Journal Of Rare Diseases

van Capelle, C I CI; van der Meijden, J C JC; van den Hout, J M P JM; Jaeken, J J; Baethmann, M M; Voit, T T; Kroos, M A MA; Derks, T G J TG; Rubio-Gozalbo, M E ME; Willemsen, M A MA; Lachmann, R H RH; Mengel, E E; Michelakakis, H H; de Jongste, J C JC; Reuser, A J J AJ; van der Ploeg, A T AT

Publication Date: 2016-05-18

Variant appearance in text: GAA: 1933G>A

PubMed Link: 27189384

Variant Present in the following documents:

• Main text
• 13023_2016_Article_442.pdf

View BVdb publication page

---

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.

Journal Of Inherited Metabolic Disease

van Gelder, C M CM; Poelman, E E; Plug, I I; Hoogeveen-Westerveld, M M; van der Beek, N A M E NAME; Reuser, A J J AJJ; van der Ploeg, A T AT

Publication Date: 2016-05

Variant appearance in text: GAA: 1933G>A

PubMed Link: 26768149

Variant Present in the following documents:

• Main text
• 10545_2015_Article_9912.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GAA: D645N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Autophagy in Natural History and After ERT in Glycogenosis Type II.

Jimd Reports

Angelini, Corrado C; Nascimbeni, Anna C AC; Fanin, Marina M

Publication Date: 2015

Variant appearance in text: GAA: 1933G>A; D645N

PubMed Link: 25712382

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Jimd Reports

Hahn, Andreas A; Praetorius, Susanne S; Karabul, Nesrin N; Dießel, Johanna J; Schmidt, Dorle D; Motz, Reinald R; Haase, Claudia C; Baethmann, Martina M; Hennermann, Julia B JB; Smitka, Martin M; Santer, René R; Muschol, Nicole N; Meyer, Ann A; Marquardt, Thorsten T; Huemer, Martina M; Thiels, Charlotte C; Rohrbach, Marianne M; Seyfullah, Gökce G; Mengel, Eugen E

Publication Date: 2015

Variant appearance in text: GAA: 1933G>A

PubMed Link: 25626711

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

Journal Of Pediatric Ophthalmology And Strabismus

Prakalapakorn, S Grace SG; Proia, Alan D AD; Yanovitch, Tammy L TL; DeArmey, Stephanie S; Mendelsohn, Nancy J NJ; Aleck, Kyrieckos A KA; Kishnani, Priya S PS

Publication Date: 2014

Variant appearance in text: GAA: 1933G>A; Asp645Asn

PubMed Link: 25139343

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Orphanet Journal Of Rare Diseases

Prater, Sean N SN; Patel, Trusha T TT; Buckley, Anne F AF; Mandel, Hanna H; Vlodavski, Eugene E; Banugaria, Suhrad G SG; Feeney, Erin J EJ; Raben, Nina N; Kishnani, Priya S PS

Publication Date: 2013-06-20

Variant appearance in text: GAA: 1933G>A; Asp645Asn

PubMed Link: 23787031

Variant Present in the following documents:

• Main text
• 1750-1172-8-90.pdf

View BVdb publication page

---

B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

The Journal Of Pediatrics

Elder, Melissa E ME; Nayak, Sushrusha S; Collins, Shelley W SW; Lawson, Lee Ann LA; Kelley, Jeffry S JS; Herzog, Roland W RW; Modica, Renee F RF; Lew, Judy J; Lawrence, Robert M RM; Byrne, Barry J BJ

Publication Date: 2013-09

Variant appearance in text: GAA: 1933G>A; Asp645Asn

PubMed Link: 23601496

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The emerging phenotype of long-term survivors with infantile Pompe disease.

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

Prater, Sean N SN; Banugaria, Suhrad G SG; DeArmey, Stephanie M SM; Botha, Eleanor G EG; Stege, Erin M EM; Case, Laura E LE; Jones, Harrison N HN; Phornphutkul, Chanika C; Wang, Raymond Y RY; Young, Sarah P SP; Kishnani, Priya S PS

Publication Date: 2012-09

Variant appearance in text: GAA: 1933G>A

PubMed Link: 22538254

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

The Journal Of Pediatrics

Kishnani, Priya Sunil PS; Nicolino, Marc M; Voit, Thomas T; Rogers, R Curtis RC; Tsai, Anne Chun-Hui AC; Waterson, John J; Herman, Gail E GE; Amalfitano, Andreas A; Thurberg, Beth L BL; Richards, Susan S; Davison, Mark M; Corzo, Deyanira D; Chen, Y T YT

Publication Date: 2006-07

Variant appearance in text: GAA: 1933G>A; Asp645Asn

PubMed Link: 16860134

Variant Present in the following documents:

• Main text

View BVdb publication page

---