Identification of two subtypes of infantile acid maltase deficiency
about
Enzyme replacement therapy for infantile-onset Pompe diseaseRadiological and clinical characterization of the lysosomal storage disorders: non-lipid disordersUnusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy.Pompe disease: from pathophysiology to therapy and back againGlycogen storage diseases: new perspectives.Molecular genetics of late onset glycogen storage disease II in Italy.Muscle glycogenoses.Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.Pompe disease diagnosis and management guideline.Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.Production of a functional human acid maltase in tobacco seeds: biochemical analysis, uptake by human GSDII cells, and in vivo studies in GAA knockout miceChildhood Pompe disease: clinical spectrum and genotype in 31 patients.Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.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.The genotype-phenotype correlation in Pompe disease.Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease.The Outcome of Infantile Onset Pompe Disease in South of Iran.Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice.Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in children affected by Pompe Disease.Enzyme replacement therapy in an infant with Pompe's disease with severe cardiomyopathy.Enzyme replacement therapy for infantile-onset Pompe disease.Anaesthetic management of infants with glycogen storage disease type II: a physiological approach.Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.Polysomnographic findings in infantile Pompe disease.
P2860
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P2860
Identification of two subtypes of infantile acid maltase deficiency
description
2000 nî lūn-bûn
@nan
2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Identification of two subtypes of infantile acid maltase deficiency
@ast
Identification of two subtypes of infantile acid maltase deficiency
@en
Identification of two subtypes of infantile acid maltase deficiency
@en-gb
Identification of two subtypes of infantile acid maltase deficiency
@nl
type
label
Identification of two subtypes of infantile acid maltase deficiency
@ast
Identification of two subtypes of infantile acid maltase deficiency
@en
Identification of two subtypes of infantile acid maltase deficiency
@en-gb
Identification of two subtypes of infantile acid maltase deficiency
@nl
prefLabel
Identification of two subtypes of infantile acid maltase deficiency
@ast
Identification of two subtypes of infantile acid maltase deficiency
@en
Identification of two subtypes of infantile acid maltase deficiency
@en-gb
Identification of two subtypes of infantile acid maltase deficiency
@nl
P2093
P3181
P356
P1476
Identification of two subtypes of infantile acid maltase deficiency
@en
P2093
P3181
P356
10.1067/MPD.2000.107112
P407
P577
2000-08-01T00:00:00Z