Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?

scientific article published on 30 May 2012

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis? is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YMGME.2012.05.016
P698PubMed publication ID22704482

P50authorAnna PichiecchioQ56942623
Michela PonzioQ73453704
P2093author name stringSabrina Ravaglia
Cesare Danesino
Paola De Filippi
Paola Bini
Guy Umberto Poloni
Kolsoum Saeidi Garaghani
P2860cites workMutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type IIQ24300206
Hand-held myometry: reference valuesQ33589439
Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscleQ33778251
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity ratingQ34011226
A randomized study of alglucosidase alfa in late-onset Pompe's diseaseQ34110220
ATS StatementQ34136219
ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studiesQ35216222
ACE polymorphismsQ36475898
Pompe's diseaseQ37302098
A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolismQ37779180
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.Q42629452
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapyQ42634296
Protective role of alpha-actinin-3 in the response to an acute eccentric exercise boutQ43052273
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe diseaseQ43121611
Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertensionQ43895522
Pompe disease: from new views on pathophysiology to innovative therapeutic strategiesQ45866303
Disease severity in children and adults with Pompe disease related to age and disease durationQ47772980
Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful?Q50781892
Genotype modulators of clinical severity in McArdle disease.Q51746266
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.Q51771787
Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes.Q53422967
Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.Q54137734
Sibling phenotype concordance in classical infantile Pompe diseaseQ56658807
Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapyQ56658809
PPARα gene variation and physical performance in Russian athletesQ57243050
The ACE gene and muscle performanceQ57243110
Genetic determinism of fiber type proportion in human skeletal muscleQ57486939
No Association of the ACTN3 Gene R577X Polymorphism with Endurance Performance in Ironman TriathlonsQ60855096
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type IIQ64042342
A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart diseaseQ72541490
The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscleQ73111165
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathyQ73747530
P433issue1-2
P304page(s)104-110
P577publication date2012-05-30
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titleCan genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?
P478volume107