Publications:

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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: 2297A>C

PubMed Link: 35795986

Variant Present in the following documents:

• Main text
• CNS-28-1651.pdf

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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: 2297A>C; Tyr766Ser

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

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Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Metabolites

Saville, Jennifer T JT; Fuller, Maria M

Publication Date: 2021-07-08

Variant appearance in text: GAA: 2297A>C

PubMed Link: 34357340

Variant Present in the following documents:

• Main text
• metabolites-11-00446.pdf

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Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase.

Nature Communications

Garvie, Colin W CW; Wu, Xiaoyun X; Papanastasiou, Malvina M; Lee, Sooncheol S; Fuller, James J; Schnitzler, Gavin R GR; Horner, Steven W SW; Baker, Andrew A; Zhang, Terry T; Mullahoo, James P JP; Westlake, Lindsay L; Hoyt, Stephanie H SH; Toetzl, Marcus M; Ranaghan, Matthew J MJ; de Waal, Luc L; McGaunn, Joseph J; Kaplan, Bethany B; Piccioni, Federica F; Yang, Xiaoping X; Lange, Martin M; Tersteegen, Adrian A; Raymond, Donald D; Lewis, Timothy A TA; Carr, Steven A SA; Cherniack, Andrew D AD; Lemke, Christopher T CT; Meyerson, Matthew M; Greulich, Heidi H

Publication Date: 2021-07-16

Variant appearance in text: GAA: Y766S

PubMed Link: 34272366

Variant Present in the following documents:

• 41467_2021_24495_MOESM5_ESM.xlsx, sheet 2
• 41467_2021_24495_MOESM5_ESM.xlsx, sheet 1

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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: 2297A>C

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

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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: 2297A>C; Tyr766Ser; rs144016984

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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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

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

Publication Date: 2021-02

Variant appearance in text: GAA: 2297A>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

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

Publication Date: 2021-02

Variant appearance in text: GAA: 2297A>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

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: 2297A>C

PubMed Link: 33073007

Variant Present in the following documents:

• Main text
• IJNS-06-00009.pdf

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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: Y766S

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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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: 2297A>C

PubMed Link: 31899940

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: 2297A>C

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: 2297A>C; Tyr766Ser

PubMed Link: 31342611

Variant Present in the following documents:

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

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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: 2297A>C; Tyr766Ser

PubMed Link: 31193175

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

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

Kishnani, Priya S PS; Gibson, James B JB; Gambello, Michael J MJ; Hillman, Richard R; Stockton, David W DW; Kronn, David D; Leslie, Nancy D ND; Pena, Loren D M LDM; Tanpaiboon, Pranoot P; Day, John W JW; Wang, Raymond Y RY; Goldstein, Jennifer L JL; An Haack, Kristina K; Sparks, Susan E SE; Zhao, Yang Y; Hahn, Si Houn SH; ,

Publication Date: 2019-11

Variant appearance in text: GAA: 2297A>C; Y766S

PubMed Link: 31086307

Variant Present in the following documents:

• Main text
• 41436_2019_Article_527.pdf

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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: 2297A>C

PubMed Link: 30897595

Variant Present in the following documents:

• cm9-132-805.pdf

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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

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

Kazi, Zoheb B ZB; Desai, Ankit K AK; Troxler, R Bradley RB; Kronn, David D; Packman, Seymour S; Sabbadini, Marta M; Rizzo, William B WB; Scherer, Katalin K; Abdul-Rahman, Omar O; Tanpaiboon, Pranoot P; Nampoothiri, Sheela S; Gupta, Neerja N; Feigenbaum, Annette A; Niyazov, Dmitriy M DM; Sherry, Langston L; Segel, Reeval R; McVie-Wylie, Alison A; Sung, Crystal C; Joseph, Alexandra M AM; Richards, Susan S; Kishnani, Priya S PS

Publication Date: 2019-04

Variant appearance in text: GAA: 2297A>C; Tyr766Ser

PubMed Link: 30214072

Variant Present in the following documents:

• Main text
• nihms-1507900.pdf

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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: 2297A>C

PubMed Link: 29289479

Variant Present in the following documents:

• Main text

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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: rs144016984

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications

Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G

Publication Date: 2017-10-24

Variant appearance in text: GAA: Y766S

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

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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: Tyr766Ser

PubMed Link: 26693141

Variant Present in the following documents:

• Main text
• main.pdf

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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: 2297A>C; Tyr766Ser

PubMed Link: 25139343

Variant Present in the following documents:

• Main text

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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: 2297A>C

PubMed Link: 22538254

Variant Present in the following documents:

• Main text

View BVdb publication page

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