Genetic heterogeneity in acid alpha-glucosidase deficiency.
about
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
Q33622590-630C6F74-E6CA-4A94-AFE6-8FAF14917B3EQ35584723-863FEFE3-B598-445A-8468-C39AFD2EFCDFQ36249664-9F97A7A7-3345-4FAB-86CF-0DBF1B466957Q36463695-99535554-0AE2-43B4-8A1A-5643028CCAFAQ40922530-3EFF9820-F51F-409D-8C25-B7DC4A958516Q41870316-B2C7AC48-5704-42F0-ABD0-388E38D80517Q41948069-70E045F4-B2A4-4305-912A-FFC3AC0705E2
P2860
Genetic heterogeneity in acid alpha-glucosidase deficiency.
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
P2093
P2860
P1476
Genetic heterogeneity in acid alpha-glucosidase deficiency
@en
P2093
G U LaBadie
K Hirschhorn
N G Beratis
P2860
P407
P577
1983-01-01T00:00:00Z