List of works - Arnold J J Reuser

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

scientific article

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations ⬇️

scientific article published on June 7, 2012

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

scientific article published on 15 December 2005

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

scientific article

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

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

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

scientific article

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

scientific article published on July 2010

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

scientific article

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 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

Fatigue: an important feature of late-onset Pompe disease

scientific article published on 02 March 2007

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

scientific article published on 29 March 2006

Future therapeutic options.

scientific article

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

scientific article published on 07 August 2019

Genotype-phenotype correlation in adult-onset acid maltase deficiency

article

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

scientific article published on 14 August 2010

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

scientific article published on 18 March 2009

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

scientific article published on 19 April 2012

Identification and characterization of the interaction between tuberin and 14-3-3zeta

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 March 27, 2013

Impaired performance of skeletal muscle in alpha-glucosidase knockout mice

scientific journal article

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

scientific article published on January 22, 2011

L-alanine supplementation in late infantile glycogen storage disease type II.

scientific article

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

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

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

scientific article

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux–lamy syndrome) ⬇️

scientific article published on August 15, 2013

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

scientific article published on 4 April 2013

N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits

scientific article

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

scientific article

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's disease

scientific article published on October 2008

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

scientific article published on March 14, 2012

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

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

scientific article published on 07 September 2012

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

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

scientific article

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease

scientific article published on 3 April 2009

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

scientific article published on June 1, 2011

The genotype-phenotype correlation in Pompe disease

scientific article published on 17 January 2012

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 use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

scientific article published on 23 July 2011

Treatment options for lysosomal storage disorders: developing insights ⬇️

scientific article published on September 26, 2012

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

article

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

scientific article

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

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

scientific article published on 27 February 2008

List of works by Arnold J J Reuser

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

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations ⬇️

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

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

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

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

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

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

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

Enzyme replacement therapy and fatigue in adults with Pompe disease

Enzyme replacement therapy and fatigue in adults with Pompe disease.

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

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

Enzyme therapy for Pompe disease: from science to industrial enterprise

Fatigue: an important feature of late-onset Pompe disease

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

Future therapeutic options.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Genotype-phenotype correlation in adult-onset acid maltase deficiency

Hearing in adults with Pompe disease

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

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

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

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

Identification and characterization of the interaction between tuberin and 14-3-3zeta

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

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

Impaired performance of skeletal muscle in alpha-glucosidase knockout mice

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

L-alanine supplementation in late infantile glycogen storage disease type II.

Lentiviral Stem Cell Gene Therapy for Pompe Disease

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

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

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

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux–lamy syndrome) ⬇️

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

N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits

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

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

Phenotypical variation within 22 families with Pompe disease

Pompe's disease

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

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

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

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

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

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease

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

The genotype-phenotype correlation in Pompe disease

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

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

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Treatment options for lysosomal storage disorders: developing insights ⬇️

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

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

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

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