Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study (Q21202855)

11

object named as

Nicolette C Notermans

Nicolette C

Notermans

1 reference

11 July 2022

6

John H J Wokke

John H J

Wokke

1 reference

11 July 2022

Nadine A van der Beek

object named as

Nadine A M E van der Beek

Nadine A M E

van der Beek

1

2 references

ORCID Public Data File 2021

11 July 2022

Jan J G M Verschuuren

13

Jan J G M

Verschuuren

2 references

ORCID Public Data File 2021

11 July 2022

8

Baziel G M

van Engelen

Baziel G M van Engelen

1 reference

11 July 2022

Juna M de Vries

2

Juna M

de Vries

1 reference

11 July 2022

Marloes L C Hagemans

3

Marloes L C

Hagemans

1 reference

11 July 2022

Wim C J Hop

4

Wim C J

Hop

1 reference

11 July 2022

Marian A Kroos

5

Marian A

Kroos

1 reference

11 July 2022

Jan B M Kuks

9

Jan B M

Kuks

1 reference

11 July 2022

Anneke J van der Kooi

10

Anneke J

van der Kooi

1 reference

11 July 2022

Karin G Faber

12

Karin G

Faber

1 reference

11 July 2022

Arnold J J Reuser

14

Arnold J J

Reuser

1 reference

11 July 2022

Ans T van der Ploeg

15

Ans T

Orphanet Journal of Rare Diseases

van der Ploeg

1 reference

11 July 2022

language of work or name

English

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publication date

2012

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published in

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volume

7

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page(s)

88

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issue

1

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exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-88

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cites work

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

19 March 2017

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Standardisation of spirometry

19 March 2017

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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

7 April 2017

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

7 April 2017

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The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings

12 September 2017

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

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

12 September 2017

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

12 September 2017

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

12 September 2017

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

12 September 2017

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Hand-held myometry: reference values

12 September 2017

1 reference

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Toward deconstructing the phenotype of late-onset Pompe disease.

12 September 2017

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Surgical treatment of myogenic blepharoptosis

27 September 2017

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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.

27 September 2017

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The spectrum and diagnosis of acid maltase deficiency.

30 May 2018

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

30 May 2018

1 reference

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Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study

21 January 2018

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

21 January 2018

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Cardiac involvement in adults with Pompe disease.

21 January 2018

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Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

21 January 2018

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Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat?

21 January 2018

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Pompe disease: Design, methodology, and early findings from the Pompe Registry

21 January 2018

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

21 January 2018

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Muscle MRI in adult-onset acid maltase deficiency

21 January 2018

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Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

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Ptosis as a feature of late-onset glycogenosis type II

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12 December 2020

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

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12 December 2020

Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities

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12 December 2020

Ptosis in Pompe disease: common genetic background in infantile and adult series

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

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12 December 2020

Adult-onset acid maltase deficiency with prominent bulbar involvement and ptosis

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12 December 2020

Muscle computed tomography in adult-onset acid maltase deficiency

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12 December 2020

A diagnostic protocol for adult-onset glycogen storage disease type II

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Facioscapulohumeral muscular dystrophy

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12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-88

1 reference

Dimensions Publication ID

313158

1051764788

0 references

Fatcat ID

release_6xiop6wx3vbsve75jdauvavryu

0 references

313158

1 reference

1 reference

1 reference