Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease
about
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIIdentification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second alleleAmniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.Genetic heterogeneity in acid alpha-glucosidase deficiency.An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.Autophagic degradation of glycogen in skeletal muscles of the newborn ratGlycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice.Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.Studies on type II glycogenosis. Effects of cortisone derivatives on acid -glucosidase.Heat-stable protein that stimulates acid alpha-glucosidase.Latency of some glycosidases of rat liver lysosomes.Glycogen storage disease type II (GAA)Glycogen metabolismLysosomal glycogen catabolismDefective GAA does not hydrolyze alpha(1;4) linkages in lysosomal glycogenDefective GAA does not hydrolyze alpha(1;6) linkages in lysosomal glycogenGAA hydrolyzes alpha(1;4) linkages in lysosomal glycogenGAA hydrolyzes alpha(1;6) linkages in lysosomal glycogenDefective GAA does not hydrolyze lysosomal glycogenGAA hydrolyzes lysosomal glycogen
P2860
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P2860
Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease
description
1970 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1970 թվականի մարտին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1970
@ast
im März 1970 veröffentlicher wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1970/03/17)
@sk
vědecký článek publikovaný v roce 1970
@cs
wetenschappelijk artikel (gepubliceerd op 1970/03/17)
@nl
наукова стаття, опублікована в березні 1970
@uk
مقالة علمية (نشرت في 17-3-1970)
@ar
name
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@ast
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@en
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@nl
type
label
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@ast
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@en
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@nl
prefLabel
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@ast
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@en
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@nl
P2093
P356
P1433
P1476
Simultaneous absence of alpha- ...... pe II glycogen storage disease
@en
P2093
P304
P356
10.1021/BI00808A017
P407
P577
1970-03-01T00:00:00Z