• February 2021
• Amicus’ AT-GAA Shows Clinically Meaningful & Significant Improvements in Both Musculoskeletal and Respiratory Measures in Late-Onset Pompe Disease Compared to Standard of Care in Pivotal Phase 3 PROPEL Study
• Amicus Therapeutics, Inc.
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• September 2020

Pregnancy Outcomes in Late Onset Pompe Disease

Life
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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 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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