• November 9, 2022

In Utero Enzyme-Replacement Therapy
for Infantile-Onset Pompe’s Disease

NEJM.org. / Massachusetts Medical Society.
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• September 2012

The emerging phenotype of long-term survivors with infantile
Pompe disease

Genetics in Medicine
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• December 2021

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Lancet Neurol
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• September 2021

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Study
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• July 2021

Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function

Study
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• May 2021

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Study
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• April 2021

Phenotypic implications of pathogenic variant types in Pompe disease

Study
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• April 2021

Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium

Study
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• February 2021

STIG study: real‑world data of long‑term outcomes of adults with Pompe disease under enzyme  replacement therapy with alglucosidase alfa

Study
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• February 2021

The impact of interrupting enzyme replacement therapy in late‑onset Pompe disease

Study
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• January 2019

Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease

Human Gene Therapy
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• December 2018

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

PLOS One
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• November 2018

AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice

Molecular Therapy: Methods and Clinical Developments
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• November 2018

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

Acta Neuropathologica Communications
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• November 2018

Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

Journal of Neurology
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• November 2018

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

Physical Therapy
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• October 2018

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

Korean Journal of Pediatrics
Abstract
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• September 2018

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease

Molecular Therapy
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• August 2018

Pompe Disease: From Basic Science to Therapy

Neurotherapeutics
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• August 2018

Pompe disease: how to solve many problems with one solution

Annals of Translational Medicine
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• July 2018

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase

International Journal of Cardiology
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• July 2018

MicroRNAs as Biomarkers in Pompe Disease

Genetics in Medicine
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• July 2018

Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening

The Journal of Pediatrics: Clinical and Laboratory Observations
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• June 2018

Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies

Stem Cell Reports
Abstract
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• May 2018

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

Orphanet Journal of Rare Diseases
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• May 2018

Pompe disease treatment with twice a week high dose alglucoside alfa in a T patient with severe dilated cardiomyopathy

Molecular Genetics and Metabolism Reports
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• April 2018

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

The Journal of Pediatrics
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• April 2018

Therapeutic Benefit of Autophagy Modulation in Pompe Disease

Molecular Therapy
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• March 2018

Perioperative management of children with glycogen storage disease type II-Pompe disease.

Pediatric Anesthesia
Abstract
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• March 2018

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

Developmental Medicine & Child Neurology
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• March 2018

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Genetics in Medicine
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• March 2018

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

Journal of Inherited Metabolic Disease
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• January 2018

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

PLOS One
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• December 2017

Immunomodulatory, liver depot gene therapy for Pompe disease

Cellular Immunology
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• December 2017

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

Molecular Genetics and Metabolism
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• December 2017

Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease

Human Gene Therapy Clinical Development
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• November 2017

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

Science Translational Medicine
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• November 2017

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

BMC Neurology
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• November 2017

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease

Nature: Scientific Reports
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• September 2017

Atg5flox-Derived Autophagy Deficient Model of Pompe Disease: Does It Tell the Whole Story?

Molecular Therapy: Methods and Clinical Development
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• August 2017

Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

JCI Insight
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• July 2017

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease

Molecular Genetics and Metabolism Reports
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• July 2017

Newborn Screening for Pompe Disease: Report from Pompe Disease Newborn Screening Working Group

Pediatrics
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• July 2017

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Pediatrics
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• July 2017

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

Pediatrics
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• June 2017

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

Molecular Therapy: Nucleic Acids
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• May 2017

Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Endocrine Connections
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• April 2017

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

Molecular Genetics and Metabolism Reports
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• March 2017

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid a-Glucosidase in Pompe Patients Co-administered with Alglucosidase alpha

Molecular Therapy
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• March 2017

Modulation of mTOR signaling as a strategy for the treatment of Pompe disease

EMBO Molecular Medicine
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• March 2017

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

Molecular Therapy: Nucleic Acids
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• March 2017

Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction

Molecular Therapy: Methods and Clinical Development
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• October 2016

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

International Journal of Molecular Sciences
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• February 2016

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes

The Journal of Pediatrics
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• February 2015

Please click here to read all of the Abstracts and Poster Presentations from the Steps Forward meeting: Abstracts and Poster Presentations from the 7th European Symposium on Steps Forward in Pompe Disease: Turin, Italy, November 21–22, 2014 Below please find the Foreword from the Steps Forward Meeting.
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• December 2014

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Neuromuscular Disorders
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• November 2014

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease

J Clin Endocrinol Metab
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• September 2014

Identification and Characterization of Aberrant GAA Pre-mRNA Splicing in Pompe Disease Using a Generic Approach

Human Mutation
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• May 2014

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease

The FASEB Journal (May 2014) Courtesy of Sharon Krueger
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• January 2014

The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris

Science Signaling
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• January 2014

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

Journal of Inherited Metabolic Disorders
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• January 2014

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

Acta Neuropathologica Communications
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• November 2013

Phenotypical variation within 22 families with Pompe disease

Orphanet Journal of Rare Diseases
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• October 2013

The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

Orphanet Journal of Rare Diseases
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• October 2013

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Orphanet Journal of Rare Diseases
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• October 2013

Early is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)

Acta Myologica
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• August 2013

A Large-Scale Nationwide Newborn Screening Program for Pompe Disease in Taiwan: Towards Effective Diagnosis and Treatment

American Journal of Medical Genetics
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• June 2013

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material- Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

PLOS ONE
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• June 2013

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

Orphanet Journal of Rare Diseases
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• June 2013

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease

Journal of Neurology
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• June 2013

Pain in adult patients with Pompe disease: A cross-sectional survey

Molecular Genetics and Metabolism
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• June 2013

Intrapleural Administration of AAV9 Improves Neural and Cardiorespiratory Function in Pompe Disease

The American Society of Gene and Cell Therapy
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• May 2013

A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function

BMC Musculoskeletal Disorders
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• May 2013

Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

Italian Journal of Pediatrics
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• March 2013

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

Orphanet Journal of Rare Diseases
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• March 2013

Enzyme replacement therapy and fatigue in adults with Pompe disease

Molecular Genetics and Metabolism
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• March 2013

B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

Journal of Pediatrics
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• February 2013

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

EMBO Molecular Medicine
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• January 2013

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

The Journal of Biological Chemistry
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• February 2012

Autophagy and Mitochondria in Pompe Disease: Nothing is so New as What Has Long Been Forgotten

American Journal of Medical Genetics
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• January 2012

Spinal Delivery of AAV Vector Restores Enzyme Activity and Increases Ventilation in Pompe Mice

The American Society of Gene and Cell Therapy
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• November 2012

Case Report: Management of a Pregnancy Complicated by Pompe Disease

Obstetrics and Gynecology
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• November 2012

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

Orphanet Journal of Rare Diseases
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• October 2012

The Rasch-built Pompe-specific Activity (R-PAct) scale

Neuromuscular Disorders
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• September 2012

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

Orphanet Journal of Rare Diseases
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• September 2012

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

Molecular Genetics and Metabolism
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• August 2012

Immune modulation in Pompe disease treated with enzyme replacement therapy

Expert Reviews in Clinical Immunology
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• June 2012

Letter to the Editor: “Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition”

European Neurology
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• June 2012

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.

Orphanet Journal of Rare Diseases
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• June 2012

Deficiency in MyD88 Signaling Results in Decreased Antibody Responses to an Adeno-Associated Virus Vector in Murine Pompe Disease

Biores Open Access
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• December 2011

Genetic Implications of Newborn Screening

Acid Maltase Deficiency Association
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• September 2011

Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation.

Wiley Online Library
Abstract
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• September 2011

Facial-Muscle Weakness, Speech Disorders and Dysphagia are Common in Patients with Classic Infantile Pompe Disease Treated with Enzyme Therapy

Journal of Inherited Metabolic Disorders
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• June 2011

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

Orphanet Journal of Rare Diseases
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• May 2011

Pompe disease gene therapy

Human Molecular Genetics
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• May 2011

Suction-Modified Bergstrom Muscle Biopsy Technique: Experience with 13500 Procedures

Muscle and Nerve
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• April 2011

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

Journal of Inherited Metabolic Disease
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• February 2011

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

Molecular Genetics and Metabolism
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• December 2010

Where do we stand in enzyme replacement therapy in Pompe’s disease?

Neuromuscular Disorders
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• November 2010

Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease

The Journal of Gene Medicine
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• September 2010

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

Neuromuscular Disorders
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• August 2010

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

Molecular Genetics and Metabolism
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• August 2010

Hydrostatic Isolated Limb Perfusion with Adeno-associated Virus Vectors Enhances Correction of Skeletal Muscle in Pompe Disease

Gene Therapy
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• August 2010

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease

Molecular Genetics and Metabolism (Abstract Only)
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• July 2010

Use of Cardiac Magnetic Resonance Imaging to Evaluate Cardiac Structure

Molecular Genetics Metabolism
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• July 2010

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

Journal of Inherited Metabolic Disease
Abstract
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• July 2010

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

Blood (Abstract Only)
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• June 2010

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

Bone
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• June 2010

Termination of autophagy and reformation of lysosomes regulated by mTOR

Nature
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• April 2010

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease

The NEW ENGLAND JOURNAL of MEDICINE
Abstract
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• April 2010

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Genetics in Medicine, Courtesy of Monty Frost
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• January 2010

Therapy for Lysosomal Storage Disorders

Life
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• December 2009

Immunomodulatory Gene Therapy in Lysosomal Storage Disorders

Current Gene Therapy
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• November 2009

Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa

Molecular Genetics and Metabolism (Abstract Only)
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• November 2009

Fatigue in neuromuscular disorders: Focus on Guillain-Barré syndrome and Pompe disease

Cellular and Molecular Life Sciences
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• October 2009

Therapeutic approaches in Glycogen Storage Disease type II (GSDII)/Pompe disease

Neurotherapeutics
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• September 2009

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Pediatric Research
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• August 2009

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

Molecular Genetics and Metabolism
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• August 2009

Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease

Molecular Therapy
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• July 2009

The values and limits of an in vitro model of Pompe disease: The best laid schemes o’ mice an’ men.

Autophagy
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• June 2009

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

Molecular Therapy
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• June 2009

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

Molecular Therapy
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• April 2009

Murine Muscle Cell Models for Pompe Disease and Their Use in Studying Therapeutic Approaches

Molecular Genetics and Metabolism
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• April 2009

Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease

Case Reports in Medicine
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• February 2009

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease

Neuromuscular Disorders (Abstract Only)
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• September 2008

A Dutch guideline for the treatment of scoliosis in neuromuscular disorders

Scoliosis
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• June 2008

Correction of Multiple Striated Muscles in Murine Pompe Disease Through Adeno-associated Virus–mediated Gene Therapy

Molecular Therapy
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• June 2008

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

Neuromuscular Disorders (Abstract Only)
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• December 2007

Deconstructing Pompe Disease by Analyzing Single Muscle Fibers

Autophagy
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• November 2007

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance

The American Journal of Human Genetics
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• January 2007

Fractures in children with Pompe disease: a potential long-term complication

Pediatric Radiology
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• September 2006

Hyaluronidase increases the biodistribution of acid a-14, glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy

Biochemical and Biophysical Research Communications, Courtesy of Jared Salbato
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• September 2006

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

Molecular Genetics and Metabolism, September 2006, Courtesy of Jared Salbato
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• August 2006

Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease

Molecular Therapy, August 2006, Courtesy of Jared Salbato
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• April 2006

Dysfunction of Endocytic and Autophagic Pathways in a Lysosomal Storage Disease (Annals of Neurology, April 2006)

Annals of Neurology, April 2006, Courtesy of Jared Salbato
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• January 2006

Characterization of Pre- and Post-Treatment Pathology After Enzyme Replacement Therapy for Pompe Disease

Laboratory Investigations, 2006, Courtesy of Jared Salbato
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• July 2005

Evasion of Immune Responses to Introduced Human Acid alpha-Glucosidase by Liver-Restricted Expression in Glycogen Storage Disease Type II

Molecular Therapy, July 2005, Courtesy of Jared Salbato
Abstract
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• June 2005

Correction of Glycogen Storage Disease Type II by an Adeno-associated Virus Vector Containing a Muscle-Specific Promoter

Molecular Therapy, June 2005, courtesy of Jared Salbato
Abstract
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• June 2005

Disease severity in children and adults with Pompe disease related to age and disease duration

Neurology, June 2005, Courtesy of the IPA Web Site
Abstract
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• April 2005

Sustained correction of glycogen storage disease type II using adeno-associated virus serotype I vectors

Gene Therapy, April 2005, Courtesy of Jared Salbato
Abstract
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• January 2005

Impact of Humoral Immune Response on Distribution and Efficacy of Recombinant Adeno-Associated Virus-Derived Acid a-Glucosidase in a Model of Glycogen Storage Disease Type II

Human Gene Therapy, January 2005, courtesy of George Fox
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• January 2005

Efficacy of an Adeno-associated Virus 8-Pseudotyped Vector in Glycogen Storage Disease Type II

Molecular Therapy, January 2005, courtesy of Monty Frost
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• January 2005

Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients

Brain: A Journal of Neurology, January 2005, courtesy of the IPA Web Site
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• November 2004

Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid a-Glucosidase Improves the Clearance of Glycogen in Pompe Mice

Journal of Biological Chemistry, November 2004
Abstract
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• November 2004

Late-onset Pompe disease primarily affects quality of life in physical health domains

Annals of Neurology, November 2004, courtesy of the IPA Web Site
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• September 2004

Enhanced tissue delivery of acid alpha-glucosidase

Journal of Biological Chemistry, September 2004, courtesy of Jared Salbato
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• August 2004

Lipoprotein Receptor Binding, Cellular Uptake, and Lysosomal Delivery of Fusions between the Receptor-associated Protein (RAP) and a-L-Iduronidase or Acid a-Glucosidase

Journal of Biological Chemistry, August 2004, courtesy of Jared Salbato
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• May 2004

Pompe’s Disease. World Succes with a Setback: Laborious Production of the Medicine

Erasmus Monitor, April/May 2004, courtesy IPA Web Site
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• May 2004

Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human Alpha-Glucosidase From Milk

Pediatrics, May 2004, courtesy of Gezinus Wolters
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• March 2004

Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease

Development, March 2004, courtesy of Jared Salbato
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• March 2004

Virus Vector Delivery to Murine Diaphragm (Gene Therapy for Pompe’s Disease a.o.)

Molecular Therapy, March 2004, courtesy Gezinus Wolters
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• October 2003

Correction/mutation of acid a-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies

Gene Therapy, October 2003
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• August 2003

The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

Pediatrics, August 2003
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• July 2000

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients

Lancet, July 2000
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• February 1998

Clinical and Metabolic Correction of Pompe Disease by Enzyme Therapy in Acid Maltase–deficient Quail

Journal of Clinical Investigations, February 1998
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• May 1997

Dietary treatment in late-onset acid maltase deficiency

European Journal of Pediatrics, 1997
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• January 1936

J.C. Pompe’s Thesis: Cardiomegalia Glycogenica

Courtesy of Gezinus Wolters’ Homepage (The thesis itself is in Dutch, but there are French and English Summaries on the last few pages)
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