Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Khan, Aleena A AA; Case, Laura E LE; Herbert, Mrudu M; DeArmey, Stephanie S; Jones, Harrison H; Crisp, Kelly K; Zimmerman, Kanecia K; ElMallah, Mai K MK; Young, Sarah P SP; Kishnani, Priya S PS
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: 2221G>A; Asp741Asn