RESEARCH PUBLICATIONS
Over the last several years there have been numerous papers published on the subject of Pompe disease and Pompe disease research. The following is a partial list (in chronological order) of these publications.
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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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Acid Maltase Deficiency Association
If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
(210) 494-6144
info@amda-pompe.org
AMDA
PO Box 700248
San Antonio, Texas 78270 USA