Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.
Children (Basel, Switzerland)
de Las Heras, Javier J; Cano, Ainara A; Vinuesa, Ana A; Montes, Marta M; Unceta Suarez, María M; Arza, Arantza A; Jiménez, Saioa S; Vera, Elena E; Del Hoyo, Marta M; Gendive, Miriam M; Aguirre, Lizar L; Muñoz, Gisela G; Fernández, Javier J; Ruiz-Espinoza, Cynthia C; Fernández, María Ángeles MÁ; Galdeano, José Miguel JM; Rodríguez, Irene I; Román, Lourdes L; Rodríguez-Serna, Amaya A; Loureiro, Begoña B; Astigarraga, Itziar I
Publication Date: 2021-11-09
Variant appearance in text: GAA: 505C>A; Leu169Met
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