Genetic heterogeneity in acid alpha-glucosidase deficiency.

Genetic heterogeneity in acid alpha-glucosidase deficiency.

Item
http://www.wikidata.org/entity/Q35202542
Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.Regional assignment of the structural gene for human alpha-L-iduronidaseIsolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
P2860

Genetic heterogeneity in acid alpha-glucosidase deficiency.

Item
http://www.wikidata.org/entity/Q35202542
description
1983 nî lūn-bûn
@nan
1983 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
Genetic heterogeneity in acid alpha-glucosidase deficiency.
@ast
Genetic heterogeneity in acid alpha-glucosidase deficiency.
@en
type
label
Genetic heterogeneity in acid alpha-glucosidase deficiency.
@ast
Genetic heterogeneity in acid alpha-glucosidase deficiency.
@en
prefLabel
Genetic heterogeneity in acid alpha-glucosidase deficiency.
@ast
Genetic heterogeneity in acid alpha-glucosidase deficiency.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Genetic heterogeneity in acid alpha-glucosidase deficiency
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932