Associated Papers
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2024
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P et al.
Orphanet Journal of Rare Diseases, 2021
Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.
van Capelle CI et al.
International Journal of Cardiology, 2018
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Ebbink BJ et al.
Developmental Medicine and Child Neurology, 2018
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
van Gelder CM et al.
Journal of Inherited Metabolic Disease, 2015
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