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
Newborn Screening for Pompe Disease: Pennsylvania Experience.
International Journal Of Neonatal Screening
Ficicioglu, Can C; Ahrens-Nicklas, Rebecca C RC; Barch, Joshua J; Cuddapah, Sanmati R SR; DiBoscio, Brenda S BS; DiPerna, James C JC; Gordon, Patricia L PL; Henderson, Nadene N; Menello, Caitlin C; Luongo, Nicole N; Ortiz, Damara D; Xiao, Rui R
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
Heliyon
Puentes-Tellez, María Alejandra MA; Lerma-Barbosa, Paula Andrea PA; Garzón-Jaramillo, Rafael Guillermo RG; Suarez, Diego A DA; Espejo-Mojica, Angela J AJ; Guevara, Johana M JM; Echeverri, Olga Yaneth OY; Solano-Galarza, Daniela D; Uribe-Ardila, Alfredo A; Alméciga-Díaz, Carlos J CJ
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
International Journal Of Neonatal Screening
Hall, Patricia L PL; Sanchez, Rossana R; Hagar, Arthur F AF; Jerris, S Caleb SC; Wittenauer, Angela A; Wilcox, William R WR
Publication Date: 2020-03
Variant appearance in text: GAA: 2236T>C; Trp746Arg
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: 2236T>C; Trp746Arg
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Jimd Reports
Niño, Mónica Yasmín MY; Mateus, Heidi Eliana HE; Fonseca, Dora Janeth DJ; Kroos, Marian A MA; Ospina, Sandra Yaneth SY; Mejía, Juan Fernando JF; Uribe, Jesús Alfredo JA; Reuser, Arnold J J AJ; Laissue, Paul P
Publication Date: 2013
Variant appearance in text: GAA: 2236T>C; Trp746Arg