List of works by Ans van der Ploeg

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014

scientific article (publication date: August 2015)

53. The Pompe Registry: Centralized data collection to track the natural course of Pompe disease

scientific article published in 2008

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

scientific article published on 16 September 2020

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

scientific article published on 25 September 2015

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

scientific article

A conceptual disease model for adult Pompe disease

scientific article

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

scientific article published on 09 November 2020

A genetic modifier of symptom onset in Pompe disease

scientific article published on 25 March 2019

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

scientific article published on 19 May 2017

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

scientific article

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

scientific article

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options

scientific article published on 12 September 2017

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

scientific article

Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease.

scientific article

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

scientific article

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

scientific article

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

scientific article

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

scientific article published on 13 November 2006

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

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

scientific article

Compromised satellite cell activation contributes to continued muscle wasting in Pompe disease

scholarly article by Gerben Schaaf published in February 2016

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease

scientific article published on 13 December 2017

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

scientific article

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

scientific article published on 06 August 2018

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

scientific article published on 01 March 2019

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

scientific article published on May 2006

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.

scientific article published on 21 January 2010

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

scientific article

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

scientific article

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

scientific article

Effects of exercise training in 23 adults with Pompe disease receiving enzyme therapy.

scientific article published on 29 May 2013

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

scientific article published on 22 March 2019

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease.

scientific article published on 19 January 2016

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

scientific article published on 08 November 2020

Enzyme replacement therapy and fatigue in adults with Pompe disease

scientific article published on 3 April 2013

Enzyme replacement therapy and fatigue in adults with Pompe disease.

scientific article published on 29 May 2013

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

scientific article

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

scientific article

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

scientific article

Enzyme therapy for Pompe disease: from science to industrial enterprise

scientific article

Erratum to “Pompe disease: Design, methodology, and early findings from the Pompe Registry” [Mol. Genet. Metabol. 103 (2011) 1–11]

scholarly article published in Molecular Genetics and Metabolism

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

scientific article published on 6 May 2017

Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning

scientific article published on 11 December 2014

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

scientific article published on 29 July 2019

Fatigue: an important feature of late-onset Pompe disease

scientific article published on 02 March 2007

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

scientific article published on 13 September 2016

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

scientific article

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

scientific article published on 25 May 2017

Hearing in adults with Pompe disease

scientific article

Hearing loss in Pompe disease revisited: results from a study of 24 children

scientific article

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

scientific journal article

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

scientific article published on 7 February 2018

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

scientific article published on 14 August 2010

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

scientific article

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

scientific article

Impact of enzyme replacement therapy on survival in adults with Pompe disease

scientific article published on 29 May 2013

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

scientific article published on 27 March 2013

Impact of time from diagnosis to treatment on lung function among patients with late-onset Pompe disease: Data from the Pompe registry

scholarly article

Increased aortic stiffness and blood pressure in non-classic Pompe disease

scientific article

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

scientific article published on 12 December 2014

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

scientific article

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

scientific article published on 16 October 2019

Lentiviral Stem Cell Gene Therapy for Pompe Disease

scientific article published in January 2015

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

scientific article published on 12 April 2010

Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases

scientific article

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

scientific article

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

scientific article published on 8 November 2017

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome

scientific article published on 8 October 2015

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

scientific article published on 19 March 2018

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

scientific article published on May 2004

Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

scientific article published on 25 June 2010

Lung MRI and impairment of diaphragmatic function in Pompe disease

scientific article published on 6 May 2015

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

scientific article published on 15 August 2013

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study

scientific article published on 22 October 2013

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany

scientific article

Mucolipidosis type III, a series of adult patients

scientific article published on 27 April 2018

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

scientific article

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

scientific article published on 7 November 2011

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

scientific article published on 4 April 2013

Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.

scientific article published on 26 January 2012

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

scientific article published on 22 June 2016

Newborn screening for pompe disease? a qualitative study exploring professional views

scientific article

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

scientific article published on 13 January 2020

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

scientific article published on 17 September 2012

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

scientific article

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

scientific article published on 22 July 2014

Phenotypical variation within 22 families with Pompe disease

scientific article

Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients

scientific article published on 20 July 2012

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

scientific article

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

article by Barry J. Byrne et al published May 2011 in Molecular Genetics and Metabolism

Pompe's disease

scientific article published on October 2008

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

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

scientific article

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

scientific article

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

scientific article published on 3 November 2015

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI

scientific article (publication date: 2016)

Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases

scientific article published on 23 May 2012

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

scientific article published on 07 September 2012

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients

scientific article published on 4 June 2013

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

scientific article published on 10 June 2020

Response to Herbert et al

scientific article published on 29 June 2017

Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease

scientific article published on 01 July 2019

Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

scientific article published on 19 July 2015

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phas

scientific article published on 17 December 2018

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

scientific article published on 7 November 2018

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

scientific article published on 08 February 2019

Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.

scientific article

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

scientific article published on 25 February 2016

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy

scientific article published in January 2015

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

scientific article

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 Pompe Registry: 10 Years of Data

scientific article

The Pompe Registry: 10years of data

The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease

The genotype-phenotype correlation in Pompe disease

scientific article published on 17 January 2012

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

scientific article published on 07 July 2018

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

scientific article

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

scientific article

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry

scientific article

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

Treatment options for lysosomal storage disorders: developing insights

scientific article published on 26 September 2012

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

article

Up to five years experience with 11 mucopolysaccharidosis type VI patients

scientific article published on 4 March 2013

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

scientific article published on 29 May 2012

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

scientific article published on 25 December 2020

microRNAs as biomarkers in Pompe disease

scientific article published on 12 July 2018

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

scientific article published on 27 February 2008

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