Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.
about
New insights into therapeutic options for Pompe diseaseThe 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 diseaseThe emerging phenotype of long-term survivors with infantile Pompe disease.The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapyIdentification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.Enzymatic Screening and Diagnosis of Lysosomal Storage DiseasesHuman-induced pluripotent stem cell approaches to model inborn and acquired metabolic heart diseases.Newborn screening for lysosomal storage diseases: an ethical and policy analysis.The genotype-phenotype correlation in Pompe disease.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy.Resolution of severe cardiomyopathy in infantile Pompe disease.Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy.Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy
P2860
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P2860
Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Reversal of cardiac dysfunctio ...... infantile-onset Pompe disease.
@en
Reversal of cardiac dysfunctio ...... infantile-onset Pompe disease.
@nl
type
label
Reversal of cardiac dysfunctio ...... infantile-onset Pompe disease.
@en
Reversal of cardiac dysfunctio ...... infantile-onset Pompe disease.
@nl
prefLabel
Reversal of cardiac dysfunctio ...... infantile-onset Pompe disease.
@en
Reversal of cardiac dysfunctio ...... infantile-onset Pompe disease.
@nl
P50
P1476
Reversal of cardiac dysfunctio ...... infantile-onset Pompe disease
@en
P2093
Chun-An Chen
Lei-Ru Chen
P304
P356
10.1016/J.JPEDS.2009.03.015
P407
P577
2009-05-31T00:00:00Z