N. A. van der Beek

发表

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

A. Pestronk, P. Laforêt, C. Morgan, 2010, The New England journal of medicine.

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

E. Brusse, A. T. van der Ploeg, H. Huidekoper, 2023, Orphanet Journal of Rare Diseases.

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

D. Rizopoulos, M. Kruijshaar, A. T. van der Ploeg, 2018, Orphanet Journal of Rare Diseases.

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

W. Hop, B. V. van Engelen, J. Verschuuren, 2012, Orphanet Journal of Rare Diseases.

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

W. Hop, B. V. van Engelen, J. Verschuuren, 2012, Orphanet Journal of Rare Diseases.

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

W. Hop, A. T. van der Ploeg, P. V. van Doorn, 2011, Molecular genetics and metabolism.

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

F. Rutten, A. T. van der Ploeg, M. Hagemans, 2011, Journal of Inherited Metabolic Disease.

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

L. J. van der Giessen, A. T. van der Ploeg, P. V. van Doorn, 2020, Orphanet Journal of Rare Diseases.

Diaphragmatic dysfunction in neuromuscular disease, an MRI study

Wim G. M. Janssen, Gijs van Tulder, Marleen de Bruijne, 2021, Neuromuscular Disorders.

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

F. T. ten Cate, M. Geleijnse, A. Nemes, 2007, International journal of cardiology.

Diffusion tensor imaging of the brain in Pompe disease

D. Rizopoulos, R. Muetzel, M. Dremmen, 2022, Journal of Neurology.

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

W. Pijnappel, M. Kroos, A. Bergsma, 2019, Human mutation.

Phenotypical variation within 22 families with Pompe disease

M. Kruijshaar, E. Brusse, A. T. van der Ploeg, 2013, Orphanet Journal of Rare Diseases.

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

D. Rizopoulos, M. Kruijshaar, A. T. van der Ploeg, 2018, Journal of Inherited Metabolic Disease.

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease

W. Pijnappel, A. T. van der Ploeg, P. V. van Doorn, 2022, Orphanet Journal of Rare Diseases.

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

F. Aarsen, M. Lequin, A. T. van der Ploeg, 2018, Developmental medicine and child neurology.

Long-term benefit of enzyme replacement therapy in Pompe disease

D. Rizopoulos, M. Kruijshaar, E. Brusse, 2017, Neurology.

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

A. T. van der Ploeg, A. Reuser, M. Hoogeveen‐Westerveld, 2016, Journal of Inherited Metabolic Disease.

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Gijs van Tulder, Marleen de Bruijne, P. Wielopolski, 2021, Orphanet Journal of Rare Diseases.

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

W. Pijnappel, A. Bergsma, Mike Broeders, 2020, European Journal of Human Genetics.

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

D. Rizopoulos, J. Hogrel, P. Laforêt, 2019, Neurology.

A genetic modifier of symptom onset in Pompe disease

B. Bembi, B. Schoser, W. Pijnappel, 2019, EBioMedicine.

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

D. Rizopoulos, M. Kruijshaar, W. Pijnappel, 2016, Genetics in Medicine.

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

M. Kroos, S. Richards, A. T. van der Ploeg, 2010, Molecular genetics and metabolism.

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

Miguel Ángel Martínez, D. Rizopoulos, M. Kruijshaar, 2018, PloS one.

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

E. Andrinopoulou, D. Rizopoulos, M. Kruijshaar, 2020, Orphanet Journal of Rare Diseases.

Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease

J. Díaz-Manera, A. T. van der Ploeg, E. Willemse, 2023, Neurology.

Communicated by: Olaf Bodamer

H. Duivenvoorden, A. T. van der Ploeg, P. V. van Doorn, 2022 .

Competing interests: None declared.

H. Verschuure, A. T. van der Ploeg, P. V. van Doorn, 2005 .

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review

A. T. van der Ploeg, H. Huidekoper, J. V. D. van den Hout, 2023, Biomolecules.

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study

P. DasMahapatra, C. Gwaltney, C. Ivanescu, 2023, Neurology. Clinical practice.

MRI changes in diaphragmatic motion and curvature in Pompe disease over time

Gijs van Tulder, Marleen de Bruijne, H. Tiddens, 2022, European Radiology.

Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease

E. Andrinopoulou, A. T. van der Ploeg, D. Rizopoulos, 2024, European journal of neurology.

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease

M. Kruijshaar, A. T. van der Ploeg, N. A. van der Beek, 2023, Journal of neurology.

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions

M. Kruijshaar, E. Brusse, A. T. van der Ploeg, 2023, BioDrugs.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

D. Rizopoulos, T. Mongini, M. Kruijshaar, 2021, The Lancet. Child & adolescent health.

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

S. Fecarotta, H. Huidekoper, J. V. D. van den Hout, 2024, Orphanet journal of rare diseases.