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List of works by Ans van der Ploeg

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

scientific article
Pompe's disease

scientific article published on October 2008
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

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

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

scientific article published on May 2004
The natural course of non-classic Pompe's disease; a review of 225 published cases

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

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

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

scientific article published on 7 November 2011
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
Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

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

scientific article
The genotype-phenotype correlation in Pompe disease

scientific article published on 17 January 2012
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

scientific article published on 14 August 2010
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

scientific article published on 13 November 2006
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

scientific article published on 17 September 2012
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

scientific article published on June 1, 2011
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

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

scientific article published on April 9, 2014
Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

scientific article published on 12 April 2010
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
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

scientific article published on March 27, 2013
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
Mucopolysaccharidosis: Cardiologic features and effects of enzyme‐replacement therapy in 24 children with MPS I, II and VI

scientific article published on January 26, 2012
Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

scientific article published on 25 June 2010
The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry

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

scientific journal article
Fatigue: an important feature of late-onset Pompe disease

scientific article published on 02 March 2007
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

scientific article published on 25 February 2016
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

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

scientific article published on 27 February 2008
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

scientific article published on 24 March 2018
Phenotypical variation within 22 families with Pompe disease

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

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

scientific article published on May 2006
Burden of illness of Pompe disease in patients only receiving supportive care.

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

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

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

scientific article published on 8 November 2017
Treatment options for lysosomal storage disorders: developing insights

scientific article published on September 26, 2012
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

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

scientific article
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

scientific article published on September 25, 2015
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

scientific article published on 4 April 2013
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study

scientific article published on 22 October 2013
Up to five years experience with 11 mucopolysaccharidosis type VI patients

scientific article published on March 4, 2013
Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease

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 November 3, 2015
Lung MRI and impairment of diaphragmatic function in Pompe disease

scientific article published on 6 May 2015

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