(Q80851946)

English

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

scientific article published on 27 August 2007

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17723315%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17723315%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

glycogen storage disease

1 reference

based on heuristic

inferred from title

glycogen metabolic process

1 reference

based on heuristic

inferred from title

author name string

McCready ME

1

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Europe PubMed Central

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4 January 2020

Carson NL

2

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4 January 2020

Chakraborty P

3

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4 January 2020

Clarke JT

4

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4 January 2020

Callahan JW

5

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4 January 2020

Skomorowski MA

6

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4 January 2020

Chan AK

7

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4 January 2020

Bamforth F

8

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4 January 2020

Casey R

9

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4 January 2020

Rupar CA

10

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4 January 2020

Geraghty MT

11

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4 January 2020

publication date

27 August 2007

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4 January 2020

Molecular Genetics and Metabolism

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4 January 2020

92

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4 January 2020

4

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4 January 2020

325-335

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4 January 2020

Pompe disease diagnosis and management guideline.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Identification of two subtypes of infantile acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Frequent mutations in Japanese patients with acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Late-onset acid maltase deficiency. Biochemical studies of leukocytes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Newborn screening for lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Improvement of muscle function in acid maltase deficiency by high-protein therapy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Glycogen storage disease: clinical, biochemical, and molecular heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.006

7 January 2021

Identifiers

10.1016/J.YMGME.2007.07.006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17723315%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17723315%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

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