about
Nuclear receptors and epigenetic signaling: novel regulators of glycogen metabolism in skeletal muscleStarch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in LiverThe 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 diseaseUse of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe diseaseRecent developments, utilization, and spending trends for pompe disease therapies.Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy.Molecular genetics of late onset glycogen storage disease II in Italy.Macroglossia.The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.Pompe disease diagnosis and management guideline.Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease.Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapyConsensus treatment recommendations for late-onset Pompe diseasePompe disease gene therapy.Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe diseaseSpinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice.A conceptual disease model for adult Pompe disease.Physical therapy management of Pompe disease.Infantile Pompe disease: A case report and review of the Chinese literatureHypertransaminasemia and fatal lung disease: a case report.Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease.Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.Two cases of Pompe's disease: case report and review of literature.Clinical consequences of reduced dosing schedule during treatment of a patient with Pompe's disease.Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment.Newborn screening for lysosomal storage diseases: an ethical and policy analysis.Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.Enzymatic and molecular strategies to diagnose Pompe disease.Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice.Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Pompe disease in infants and children.
@ast
Pompe disease in infants and children.
@en
type
label
Pompe disease in infants and children.
@ast
Pompe disease in infants and children.
@en
prefLabel
Pompe disease in infants and children.
@ast
Pompe disease in infants and children.
@en
P1476
Pompe disease in infants and children.
@en
P2093
Priya Sunil Kishnani
R Rodney Howell
P304
P356
10.1016/J.JPEDS.2004.01.053
P407
P433
P577
2004-05-01T00:00:00Z