The natural course of non-classic Pompe's disease; a review of 225 published cases.
about
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational studySide-alternating vibration training improves muscle performance in a patient with late-onset pompe diseaseThe clinical relevance of outcomes used in late-onset Pompe disease: can we do better?Detection of Active Mammalian GH31 α-Glucosidases in Health and Disease Using In-Class, Broad-Spectrum Activity-Based Probes.Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency.Hearing loss in Pompe disease revisited: results from a study of 24 children.Phenotypical variation within 22 families with Pompe disease.Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.Increased aortic stiffness and blood pressure in non-classic Pompe disease.Systemic delivery of AAV8 in utero results in gene expression in diaphragm and limb muscle: treatment implications for muscle disorders.Recent developments, utilization, and spending trends for pompe disease therapies.Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease.Molecular genetics of late onset glycogen storage disease II in Italy.Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.Consensus treatment recommendations for late-onset Pompe diseaseEnzyme replacement therapy in late-onset Pompe disease: a systematic literature review.The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupLack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.Familial Pompe DiseaseEffect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.Infantile Pompe disease: A case report and review of the Chinese literatureGlycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice.Childhood Pompe disease: clinical spectrum and genotype in 31 patients.Glycogen storage disease type II: clinical overview.Neural deficits contribute to respiratory insufficiency in Pompe disease.Therapeutic approaches in glycogen storage disease type II/Pompe Disease.Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice.Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibshipFatigue: an important feature of late-onset Pompe disease.Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease.Adult-onset Pompe's disease presenting with insidious hypercapnic respiratory failure.Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.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.
P2860
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P2860
The natural course of non-classic Pompe's disease; a review of 225 published cases.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
The natural course of non-classic Pompe's disease; a review of 225 published cases.
@ast
The natural course of non-classic Pompe's disease; a review of 225 published cases.
@en
type
label
The natural course of non-classic Pompe's disease; a review of 225 published cases.
@ast
The natural course of non-classic Pompe's disease; a review of 225 published cases.
@en
prefLabel
The natural course of non-classic Pompe's disease; a review of 225 published cases.
@ast
The natural course of non-classic Pompe's disease; a review of 225 published cases.
@en
P2093
P2860
P1433
P1476
The natural course of non-classic Pompe's disease; a review of 225 published cases.
@en
P2093
Ans T van der Ploeg
Arnold J J Reuser
Léon P F Winkel
M Christa B Loonen
Marloes L C Hagemans
Wim J C Hop
P2860
P2888
P304
P356
10.1007/S00415-005-0922-9
P577
2005-08-01T00:00:00Z