Lista de obras -

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

A conceptual disease model for adult Pompe disease

artículo científico publicado en 2015

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

artículo científico publicado en 2020

A genetic modifier of symptom onset in Pompe disease

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Enzyme replacement therapy and fatigue in adults with Pompe disease

artículo científico publicado en 2013

Enzyme replacement therapy and fatigue in adults with Pompe disease.

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Enzyme therapy for Pompe disease: from science to industrial enterprise

artículo científico publicado en 2002

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

Fatigue: an important feature of late-onset Pompe disease

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Hearing in adults with Pompe disease

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2010

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2004

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

artículo científico

Lung MRI and impairment of diaphragmatic function in Pompe disease

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Mucolipidosis type III, a series of adult patients

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Mucopolysaccharidosis: Cardiologic features and effects of enzyme‐replacement therapy in 24 children with MPS I, II and VI ⬇️

artículo científico publicado el 26 de enero de 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Phenotypical variation within 22 families with Pompe disease

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2020

Response to Herbert et al

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de junio de 2011

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

artículo científico publicado en 2018

The Pompe Registry: 10 Years of Data

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Treatment options for lysosomal storage disorders: developing insights

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2020

microRNAs as biomarkers in Pompe disease

artículo científico publicado en 2018

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

scientific article published on 27 February 2008

Lista de obras de

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

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

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

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

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

A conceptual disease model for adult Pompe disease

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

A genetic modifier of symptom onset in Pompe disease

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

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

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

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

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

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

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

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

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

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

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

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

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

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

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

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

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

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

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

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Fatigue: an important feature of late-onset Pompe disease

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

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

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

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

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

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

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.

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

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

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

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

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

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

Lentiviral Stem Cell Gene Therapy for Pompe Disease

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

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

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

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

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

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

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

Lung MRI and impairment of diaphragmatic function in Pompe disease

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

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

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