(Q56234359)

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

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695532%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695532%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

genotype-phenotype correlation

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based on heuristic

inferred from title

glycogen storage disease

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based on heuristic

inferred from title

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based on heuristic

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7

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17 November 2019

10

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17 November 2019

Lina Basel-Vanagaite

13

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17 November 2019

author name string

Dik van Leenen

2

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17 November 2019

Hitoshi Sakuraba

6

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17 November 2019

Wim Kleijer

8

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17 November 2019

Helen Michelakakis

9

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17 November 2019

Janice Fletcher

11

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17 November 2019

Nils Bosshard

12

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17 November 2019

Guy Besley

14

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17 November 2019

Monique M P Hermans

1

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17 November 2019

Marian A Kroos

3

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17 November 2019

Clare E Beesley

4

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17 November 2019

Ans T Van Der Ploeg

5

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17 November 2019

Arnold J J Reuser

15

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17 November 2019

publication date

1 January 2004

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17 November 2019

1 reference

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17 November 2019

23

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17 November 2019

1

1 reference

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17 November 2019

47-56

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17 November 2019

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

https://api.crossref.org/works/10.1002%2FHUMU.10286

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

21 January 2018

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

21 January 2018

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/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

L-alanine supplementation in late infantile glycogen storage disease type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogenosis type II (acid maltase deficiency)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Point mutation in Pompe disease in Chinese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequent mutations in Japanese patients with acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of exon 18 is a frequent mutation in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10286

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10286

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695532%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695532%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

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