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Seminars in Neurology, 2013
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset ...
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Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset ...
openaire +2 more sources
alpha-Glucosidase deficiency (Pompe's disease).
Enzyme, 1987alpha-Glucosidase is deficient (less than 30% of control) in Pompe's disease, but the extent of the deficiency does not always correlate with the severity of the clinical symptoms. The defects that lead to a deficiency of alpha-glucosidase include synthesis of catalytically inactive protein, absence of mRNA for the enzyme, decreased synthesis of the ...
Tager, J. M. +6 more
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Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
Nature Communications, 2017Beatrice Cobucci-Ponzano +2 more
exaly
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase
Science Translational Medicine, 2017Francesco Puzzo +2 more
exaly
Pompe Disease: From Basic Science to Therapy
Neurotherapeutics, 2018Rosa Puertollano, Nina Raben
exaly
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder
Biomolecules, 2020Nina Raben
exaly