p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? (Q80776572)

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title

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? (English)

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1

Marian A Kroos

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11

Arnold J J Reuser

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9

Ans T Van der Ploeg

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author name string

Reinier A Mullaart

2

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Laura Van Vliet

3

1 reference

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Robert J Pomponio

4

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Hernan Amartino

5

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Edwin H Kolodny

6

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Gregory M Pastores

7

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Ron A Wevers

8

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Dicky J J Halley

10

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publication date

27 February 2008

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European Journal of Human Genetics

3 January 2020

published in

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volume

16

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issue

8

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page(s)

875-879

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Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement

3 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

New GAA mutations in Japanese patients with GSDII (Pompe disease)

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

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/10.1038/EJHG.2008.34

7 January 2021

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/10.1038/EJHG.2008.34

7 January 2021

Glycogenosis type II (acid maltase deficiency)

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

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/10.1038/EJHG.2008.34

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/10.1038/EJHG.2008.34

7 January 2021

A novel acid α‐glucosidase mutation identified in a Pakistani family with glycogen storage disease type II

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https://api.crossref.org/works/10.1038/EJHG.2008.34

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.34

1 reference

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3 January 2020

1 reference