(Q84390466)

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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

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5 February 2020

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

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5 February 2020

Anna Pichiecchio

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5 February 2020

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5 February 2020

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Sabrina Ravaglia

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5 February 2020

Paola De Filippi

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5 February 2020

Kolsoum Saeidi Garaghani

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5 February 2020

Guy Umberto Poloni

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5 February 2020

Paola Bini

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5 February 2020

Cesare Danesino

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5 February 2020

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30 May 2012

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5 February 2020

Molecular Genetics and Metabolism

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5 February 2020

107

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5 February 2020

1-2

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5 February 2020

104-110

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5 February 2020

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

1 reference

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Pompe's disease

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Disease severity in children and adults with Pompe disease related to age and disease duration

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Sibling phenotype concordance in classical infantile Pompe disease

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A randomized study of alglucosidase alfa in late-onset Pompe's disease

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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

1 reference

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7 January 2021

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.

1 reference

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7 January 2021

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

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Genetic determinism of fiber type proportion in human skeletal muscle

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7 January 2021

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

1 reference

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7 January 2021

The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscle

1 reference

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7 January 2021

Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.

1 reference

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7 January 2021

The ACE gene and muscle performance

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Genotype modulators of clinical severity in McArdle disease.

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ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies

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PPARα gene variation and physical performance in Russian athletes

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Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy

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Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful?

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Hand-held myometry: reference values

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Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

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A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease

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No Association of the ACTN3 Gene R577X Polymorphism with Endurance Performance in Ironman Triathlons

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Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension

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Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle

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Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy

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7 January 2021

ACE polymorphisms

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7 January 2021

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies

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7 January 2021

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

1 reference

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7 January 2021

Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes.

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A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism

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Protective role of alpha-actinin-3 in the response to an acute eccentric exercise bout

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Identifiers

10.1016/J.YMGME.2012.05.016

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704482%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704482%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

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