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,
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: 722_723delTT; Phe241Cysfs*88
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Berrier, Kathryn L KL; Kazi, Zoheb B ZB; Prater, Sean N SN; Bali, Deeksha S DS; Goldstein, Jennifer J; Stefanescu, Mihaela C MC; Rehder, Catherine W CW; Botha, Eleanor G EG; Ellaway, Carolyn C; Bhattacharya, Kaustuv K; Tylki-Szymanska, Anna A; Karabul, Nesrin N; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2015-11
Variant appearance in text: GAA: 722_723delTT; Phe241CysfsX88
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.
Molecular Genetics And Metabolism
Banugaria, Suhrad G SG; Patel, Trusha T TT; Mackey, Joanne J; Das, Stuti S; Amalfitano, Andrea A; Rosenberg, Amy S AS; Charrow, Joel J; Chen, Y-T YT; Kishnani, Priya S PS
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: 722_723delTT; Phe241CysfsX88
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Molecular Genetics And Metabolism
Kishnani, Priya S PS; Goldenberg, Paula C PC; DeArmey, Stephanie L SL; Heller, James J; Benjamin, Danny D; Young, Sarah S; Bali, Deeksha D; Smith, Sue Ann SA; Li, Jennifer S JS; Mandel, Hanna H; Koeberl, Dwight D; Rosenberg, Amy A; Chen, Y-T YT