Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
about
Starch binding domain-containing protein 1/genethonin 1 is a novel participant in glycogen metabolismRole of autophagy in glycogen breakdown and its relevance to chloroquine myopathyInteraction mode between catalytic and regulatory subunits in glucosidase II involved in ER glycoprotein quality controlThe pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe diseaseGel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established diseaseRespiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease.Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation.Molecular genetics of late onset glycogen storage disease II in Italy.Does abnormal glycogen structure contribute to increased susceptibility to seizures in epilepsy?Mapping the T helper cell response to acid α-glucosidase in Pompe miceDiscovery of a novel noniminosugar acid α glucosidase chaperone series.Pompe disease diagnosis and management guideline.Consensus treatment recommendations for late-onset Pompe diseaseB-Cell Depletion is Protective Against Anti-AAV Capsid Immune Response: A Human Subject Case StudyPeripheral nerve and neuromuscular junction pathology in Pompe diseasePompe disease gene therapy.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Hypoglossal neuropathology and respiratory activity in pompe micePatient empowerment: a look back, a look ahead.Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice.Tissue-specific inactivation of murine M6P/IGF2R.Genetic counseling in Pompe disease.Correcting Neuromuscular Deficits With Gene Therapy in Pompe DiseaseStimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines.Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series.Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.Glycogen storage disease type II: clinical overview.Genetic determinants of cardiac hypertrophy.Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease.Adeno-associated virus-mediated gene therapy for metabolic myopathy.A review of treatment of Pompe disease in infantsA new resorufin-based alpha-glucosidase assay for high-throughput screening.The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.Preclinical toxicology and biodistribution studies of recombinant adeno-associated virus 1 human acid α-glucosidase.Metabolic myopathies: functional evaluation by different exercise testing approaches.
P2860
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P2860
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@ast
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@en
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@nl
type
label
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@ast
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@en
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@nl
prefLabel
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@ast
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@en
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@nl
P2093
P356
P1476
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
@en
P2093
Barry J Byrne
Nina Raben
Paul Plotz
P304
P356
10.2174/1566524024605789
P577
2002-03-01T00:00:00Z