Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study (Q36459627)

14 August 2017

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study (English)

1 reference

14 August 2017

15

Pieter A van Doorn

1 reference

14 August 2017

Nicolette C Notermans

10

Nicolette C Notermans

1 reference

14 August 2017

5

John H Wokke

1 reference

14 August 2017

7

Baziel G M van Engelen

1 reference

14 August 2017

Anneke J van der Kooi

9

Anneke J van der Kooi

1 reference

14 August 2017

6

Marianne de Visser

1 reference

14 August 2017

16

Ans T van der Ploeg

1 reference

14 August 2017

14

Arnold J J Reuser

1 reference

14 August 2017

12

Jan J G M Verschuuren

1 reference

14 August 2017

11

Catharina G Faber

1 reference

14 August 2017

Michelle E Kruijshaar

13

Michelle E Kruijshaar

1 reference

14 August 2017

1

Juna M de Vries

1 reference

14 August 2017

Nadine A van der Beek

2

Nadine A M E van der Beek

1 reference

14 August 2017

Wim C J Hop

3

1 reference

14 August 2017

Francois P J Karstens

4

1 reference

14 August 2017

Jan B M Kuks

8

1 reference

14 August 2017

26 September 2012

1 reference

Orphanet Journal of Rare Diseases

14 August 2017

1 reference

14 August 2017

7

1 reference

14 August 2017

73

1 reference

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

A randomized study of alglucosidase alfa in late-onset Pompe's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the European Respiratory Society

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Gender differences in strength and muscle fiber characteristics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Predicted normal values for maximal respiratory pressures in caucasian adults and children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Hand-held myometry: reference values

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Disease severity in children and adults with Pompe disease related to age and disease duration

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

ATS/ERS Statement on respiratory muscle testing

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519647

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

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/1750-1172-7-73

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

21 January 2018

1 reference

12 December 2020

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

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

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

1 reference

12 December 2020

Voluntary strength and muscle characteristics in untrained men and women and male bodybuilders

1 reference

12 December 2020

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study

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

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

1 reference

12 December 2020

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-73

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

PubMed publication ID

23013746

1 reference