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List of works by Nadine A van der Beek

A genetic modifier of symptom onset in Pompe disease

scientific article published on 25 March 2019

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

scientific article published on 05 October 2018

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

scientific article published on 15 December 2005

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

scientific article published on 21 August 2019

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

scientific article

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

scientific article published on 01 January 2007

Burden of illness of Pompe disease in patients only receiving supportive care.

scientific article

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

scientific article published on 30 August 2008

Cardiac involvement in adults with Pompe disease.

scientific article published on 4 April 2008

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

scientific article published on 07 January 2021

Cine-MRI as a New Tool to Evaluate Diaphragmatic Dysfunction in Pompe Disease

article by Stephan C Wens et al published 1 January 2015 in Journal of neuromuscular diseases

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

scientific article published on 24 March 2018

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

scientific article

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

scientific article

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

scientific article published on December 1, 2010

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study

scientific article published on 14 January 2016

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

scientific article published on 08 November 2020

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

scientific article published on 19 April 2009

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients

scientific article

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

scientific article published on 29 July 2019

Fatal Balamuthia mandrillaris Meningoencephalitis in the Netherlands after Travel to The Gambia.

scientific article published on May 2015

Hearing in adults with Pompe disease

scientific article

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

scientific article published on 14 August 2010

Increased aortic stiffness in glycogenosis type 2 (Pompe's disease)

scientific article published on 03 November 2006

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

scientific article published on 16 October 2019

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study

scientific article published on 8 November 2017

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

scientific article published on 19 March 2018

Modifying the Medical Research Council grading system through Rasch analyses ⬇️

scientific article published on December 20, 2011

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

scientific article

Phenotypical variation within 22 families with Pompe disease

scientific article

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

scientific article

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

scientific article published on 03 September 2020

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

scientific article published on 11 December 2008

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

scientific article published on 24 June 2011

Response to Herbert et al

scientific article published on 29 June 2017

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

scientific article published in PLoS ONE

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

scientific article published on 13 September 2011

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

scientific article

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