Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype (Q71599220)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

H Tsunoda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

T Ohshima

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

J Tohyama

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

M Sasaki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

N Sakuragawa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

F Martiniuk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

publication date

1 April 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

page(s)

496-499

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf02267074

19 October 2019

exact match

0 references

cites work

Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA

1 reference

12 December 2020

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients

1 reference

12 December 2020

alpha-Glucosidase deficiency (Pompe's disease).

1 reference

12 December 2020

Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.

1 reference

12 December 2020

Residual acid maltase activity in late-onset acid maltase deficiency

1 reference

12 December 2020

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex

1 reference

12 December 2020

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele

1 reference

12 December 2020

Adult and infantile glycogenosis type II in one family, explained by allelic diversity

1 reference

12 December 2020

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

1 reference

12 December 2020

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

1 reference

12 December 2020

The spectrum and diagnosis of acid maltase deficiency.

1 reference

12 December 2020

Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences

1 reference

12 December 2020

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.

1 reference

12 December 2020

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

1 reference

12 December 2020

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

1 reference

12 December 2020

Identification 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 allele

1 reference

12 December 2020

Point mutation in Pompe disease in Chinese

1 reference

12 December 2020

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

1 reference

12 December 2020

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II

1 reference

12 December 2020

Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells

1 reference

12 December 2020

Characterization of neutral isozymes of human alpha-glucosidase: differences in substrate specificity, molecular weight and electrophoretic mobility

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02267074

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834250%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference