Publications:

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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: 1437+2T>C

PubMed Link: 31392197

Variant Present in the following documents:

• Main text

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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: 1437+2T>C

PubMed Link: 31392188

Variant Present in the following documents:

• Main text

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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: 1437+2T>C

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.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: 1437+2T>C

PubMed Link: 30214072

Variant Present in the following documents:

• Main text
• nihms-1507900.pdf

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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: 1437+2T>C

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

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c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

Bmj Case Reports

Morales, Andrés A; Poling, Mikaela I MI; Páez, Marco T MT; Cabrera, Julio J; McCormick, Rodger J RJ

Publication Date: 2015-07-09

Variant appearance in text: GAA: 1437+2T>C

PubMed Link: 26160551

Variant Present in the following documents:

• Main text

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Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

The American Journal Of Case Reports

Hobson-Webb, Lisa D LD; Austin, Stephanie L SL; Jain, Sneha S; Case, Laura E LE; Greene, Karla K; Kishnani, Priya S PS

Publication Date: 2015-04-03

Variant appearance in text: GAA: 1437+2T>C

PubMed Link: 25835646

Variant Present in the following documents:

• Main text
• amjcaserep-16-196.pdf

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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: 1437+2T>C

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

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Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

European Journal Of Human Genetics : Ejhg

Zampieri, Stefania S; Buratti, Emanuele E; Dominissini, Silvia S; Montalvo, Anna Lisa AL; Pittis, Maria Gabriela MG; Bembi, Bruno B; Dardis, Andrea A

Publication Date: 2011-04

Variant appearance in text: GAA: 1437+2T>C

PubMed Link: 21179066

Variant Present in the following documents:

• Main text

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