Publications:

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Current Issues In Molecular Biology

De Filippi, Paola P; Errichiello, Edoardo E; Toscano, Antonio A; Mongini, Tiziana T; Moggio, Maurizio M; Ravaglia, Sabrina S; Filosto, Massimiliano M; Servidei, Serenella S; Musumeci, Olimpia O; Giannini, Fabio F; Piperno, Alberto A; Siciliano, Gabriele G; Ricci, Giulia G; Di Muzio, Antonio A; Rigoldi, Miriam M; Tonin, Paola P; Croce, Michele Giovanni MG; Pegoraro, Elena E; Politano, Luisa L; Maggi, Lorenzo L; Telese, Roberta R; Lerario, Alberto A; Sancricca, Cristina C; Vercelli, Liliana L; Semplicini, Claudio C; Pasanisi, Barbara B; Bembi, Bruno B; Dardis, Andrea A; Palmieri, Ilaria I; Cereda, Cristina C; Valente, Enza Maria EM; Danesino, Cesare C

Publication Date: 2023-04-01

Variant appearance in text: GAA: 1121G>T

PubMed Link: 37185710

Variant Present in the following documents:

• cimb-45-00186.pdf

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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International Journal Of Neonatal Screening

Burton, Barbara K BK; Charrow, Joel J; Hoganson, George E GE; Fleischer, Julie J; Grange, Dorothy K DK; Braddock, Stephen R SR; Hitchins, Lauren L; Hickey, Rachel R; Christensen, Katherine M KM; Groepper, Daniel D; Shryock, Heather H; Smith, Pamela P; Shao, Rong R; Basheeruddin, Khaja K

Publication Date: 2020-03

Variant appearance in text: GAA: 1121G>T

PubMed Link: 33073003

Variant Present in the following documents:

• Main text
• IJNS-06-00004.pdf

View BVdb publication page