Phenotypical variation within 22 families with Pompe disease (Q30558083)

19 August 2017

Phenotypical variation within 22 families with Pompe disease (English)

1 reference

19 August 2017

7

Pieter A van Doorn

1 reference

19 August 2017

Nadine A van der Beek

1 reference

ORCID Public Data File 2021

author name string

Stephan C A Wens

1

1 reference

19 August 2017

Carin M van Gelder

2

1 reference

19 August 2017

Michelle E Kruijshaar

3

1 reference

19 August 2017

Juna M de Vries

4

1 reference

19 August 2017

Nadine A M E van der Beek

5

1 reference

19 August 2017

Arnold J J Reuser

6

1 reference

19 August 2017

Ans T van der Ploeg

8

1 reference

19 August 2017

Esther Brusse

9

1 reference

19 August 2017

19 November 2013

1 reference

Orphanet Journal of Rare Diseases

19 August 2017

1 reference

19 August 2017

8

1 reference

19 August 2017

182

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-182

19 August 2017

0 references

cites work

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

The genotype-phenotype correlation in Pompe disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Clinical and histologic ocular findings in pompe disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Pompe disease diagnosis and management guideline.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

The natural course of non-classic Pompe's disease; a review of 225 published cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

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.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

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

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-182

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-182

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-182

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-182

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-182

Genotype-phenotype correlation in adult-onset acid maltase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-182

Sibling phenotype concordance in classical infantile Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-182

Diagnostic criteria for late-onset (childhood and adult) Pompe disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843594

Ptosis as a feature of late-onset glycogenosis type II

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Ptosis as a feature of late-onset glycogenosis type II

1 reference

12 December 2020

Clinical features of late-onset Pompe disease: a prospective cohort study

1 reference

12 December 2020

Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy

1 reference

12 December 2020

Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease

1 reference

12 December 2020

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?

1 reference

12 December 2020

How to describe the clinical spectrum in Pompe disease?

1 reference

12 December 2020

Adult acid maltase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-182

1 reference

Dimensions Publication ID

19 August 2017

0 references

1 reference

19 August 2017

PubMed publication ID

24245577

1 reference