Related references
Note: Only part of the references are listed.In-vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe disease
Rebeca Choy et al.
MOLECULAR GENETICS AND METABOLISM (2022)
Pharmacology of small molecule inhibitors of GYS1 in a mouse model of Pompe disease
Yannan Xi et al.
MOLECULAR GENETICS AND METABOLISM (2022)
Genetic reduction of muscle glycogen is well tolerated in UK Biobank participants
Julian R. Homburger et al.
MOLECULAR GENETICS AND METABOLISM (2022)
Gene Therapy Developments for Pompe Disease
Zeenath Unnisa et al.
BIOMEDICINES (2022)
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
Mazen M. Dimachkie et al.
NEUROLOGY (2022)
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
Mazen M. Dimachkie et al.
NEUROLOGY (2022)
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
Benedikt Schoser et al.
LANCET NEUROLOGY (2021)
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Jordi Diaz-Manera et al.
LANCET NEUROLOGY (2021)
Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses
Ying Kai Chan et al.
SCIENCE TRANSLATIONAL MEDICINE (2021)
Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates
Helena Costa-Verdera et al.
NATURE COMMUNICATIONS (2021)
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database
Kyung Sun Park
MOLECULAR GENETICS AND METABOLISM REPORTS (2021)
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience
Monica Y. Nino et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase
Umut Cagin et al.
MOLECULAR THERAPY (2020)
Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease
Merel Stok et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease
Giuseppa Piras et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)
Advancements in AAV-mediated Gene Therapy for Pompe Disease
S. M. Salabarria et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2020)
Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects
Pasqualina Colella et al.
EBIOMEDICINE (2020)
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
Patricia L. Hall et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Progress and challenges of gene therapy for Pompe disease
Giuseppe Ronzitti et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
Newborn screening: Taiwanese experience
Yin-Hsiu Chien et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
Liver depot gene therapy for Pompe disease
Priya S. Kishnani et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
Loren D. M. Pena et al.
NEUROMUSCULAR DISORDERS (2019)
Improved efficacy of a next-generation ERT in murine Pompe disease
Su Xu et al.
JCI INSIGHT (2019)
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α
Priya Kishnani et al.
MOLECULAR THERAPY (2017)
Overcoming the Host Immune Response to Adeno-Associated Virus Gene Delivery Vectors: The Race Between Clearance, Tolerance, Neutralization, and Escape
Federico Mingozzi et al.
ANNUAL REVIEW OF VIROLOGY, VOL 4 (2017)
Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning
Manuela Corti et al.
HUMAN GENE THERAPY CLINICAL DEVELOPMENT (2015)
Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease
Nicholas P. Clayton et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2014)
Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges
Federico Mingozzi et al.
NATURE REVIEWS GENETICS (2011)
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease.
Ans T. van der Ploeg et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Glycoengineered Acid alpha-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease
Yunxiang Zhu et al.
MOLECULAR THERAPY (2009)