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,
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; ,
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: 1650dupG; Thr551Aspfs*85
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: 1650dupG; Thr551AspfsX85
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: 1650dupG; Thr551AspfsX85