(Q45345322)

English

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

scientific article published on 29 May 2012

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scholarly article

1 reference

Europe PubMed Central

13 December 2017

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants (English)

1 reference

Europe PubMed Central

13 December 2017

0 references

author name string

Marian Kroos

1

1 reference

Europe PubMed Central

13 December 2017

Marianne Hoogeveen-Westerveld

2

1 reference

Europe PubMed Central

13 December 2017

Helen Michelakakis

3

1 reference

Europe PubMed Central

13 December 2017

Robert Pomponio

4

1 reference

Europe PubMed Central

13 December 2017

Ans Van der Ploeg

5

1 reference

Europe PubMed Central

13 December 2017

Dicky Halley

6

1 reference

Europe PubMed Central

13 December 2017

Arnold Reuser

7

1 reference

Europe PubMed Central

13 December 2017

GAA Database Consortium

8

1 reference

Europe PubMed Central

13 December 2017

publication date

29 May 2012

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Europe PubMed Central

13 December 2017

1 reference

Europe PubMed Central

13 December 2017

33

1 reference

Europe PubMed Central

13 December 2017

8

1 reference

Europe PubMed Central

13 December 2017

1161-1165

1 reference

Europe PubMed Central

13 December 2017

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

21 January 2018

Pompe disease in infants and children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

21 January 2018

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

21 January 2018

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

21 January 2018

Pompe's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

21 January 2018

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

21 January 2018

Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

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.22108

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

7 January 2021

based on heuristic

inferred from DOI database lookup

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22108

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22108

1 reference

Europe PubMed Central

13 December 2017

1 reference

Europe PubMed Central

13 December 2017

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