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
Clinical Analysis of Algerian Patients with Pompe Disease.
Journal Of Neurodegenerative Diseases
Sifi, Y Y; Medjroubi, M M; Froissart, R R; Taghane, N N; Sifi, K K; Benhabiles, A A; Lemai, S S; Semra, S S; Benmekhebi, H H; Bouderda, Z Z; Abadi, N N; Hamri, A A