The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

(2012) Elfrida R Benjamin et al.   MOLECULAR THERAPY

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

(2011) Caterina Porto et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pharmacokinetics and muscle distribution of AT2220, a pharmacological chaperone of acid-glucosidase, in healthy volunteers

(2011) Mathews Adera et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

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

(2010) N. P. van Til et al.   BLOOD

Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model

(2010) A. Joseph et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease

(2010) Chyan-Jang Lee et al.   Journal of Cardiology

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

(2010) Juna M. de Vries et al.   MOLECULAR GENETICS AND METABOLISM

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

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Immortalization of murine muscle cells from lysosomal α-glucosidase deficient mice: A new tool to study pathophysiology and assess therapeutic strategies for Pompe disease

(2009) Gaëlle Douillard-Guilloux et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

(2009) Marc Nicolino et al.   GENETICS IN MEDICINE

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

(2009) John J. Flanagan et al.   HUMAN MUTATION

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

Temporal Neuropathologic and Behavioral Phenotype of 6neo/6neoPompe Disease Mice

(2009) Richard L. Sidman et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease

(2009) Lei-Ru Chen et al.   JOURNAL OF PEDIATRICS

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

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

(2009) Caterina Porto et al.   MOLECULAR THERAPY

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

(2009) Yunxiang Zhu et al.   MOLECULAR THERAPY

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

(2009) Baodong Sun et al.   MOLECULAR THERAPY

G.P.8.05 The pharmacological chaperone AT2220 increases mutant acid alpha-glucosidase levels and reduces tissue glycogen in a mouse model of Pompe disease

(2009) R. Khanna et al.   NEUROMUSCULAR DISORDERS

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

(2009) Nancy J. Mendelsohn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neural deficits contribute to respiratory insufficiency in Pompe disease

(2009) L. R. DeRuisseau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

(2008) Jin-Song Shen et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Therapeutic approaches in glycogen storage disease type II/pompe disease

(2008) Benedikt Schoser et al.   Neurotherapeutics

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY

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

(2007) Maarten R. Drost et al.   MUSCLE & NERVE