Associated Papers
Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Bychkov I et al.
International Journal of Molecular Sciences, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.
Moravej H et al.
Iranian Journal of Medical Sciences, 2018
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
Remiche G et al.
Journal of Neurology, 2014
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
Ausems MG et al.
Journal of Medical Genetics, 2001
Glycogenosis type II (acid maltase deficiency).
Reuser AJ et al.
Muscle & Nerve. Supplement, 1995
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
Dagnino F et al.
Human Heredity, 0
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