(Q48385031)

11 February 2018

title

Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients. (English)

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11 February 2018

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9

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author name string

Olimpia Musumeci

1

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11 February 2018

Natalia Catalano

2

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11 February 2018

Emanuele Barca

3

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11 February 2018

Sabrina Ravaglia

4

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11 February 2018

Agata Fiumara

5

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Giovanna Gangemi

6

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11 February 2018

Carmelo Rodolico

7

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11 February 2018

Giovanni Sorge

8

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11 February 2018

Francesco Galletti

10

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11 February 2018

Antonio Toscano

11

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publication date

17 August 2012

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11 February 2018

Molecular Genetics and Metabolism

published in

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11 February 2018

volume

107

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11 February 2018

issue

3

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11 February 2018

page(s)

480-484

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11 February 2018

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

1 reference

Diagnosis of glycogenosis type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Management and treatment of glycogenosis type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Hearing loss in Hunter's syndrome--mucopolysaccharidosis II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Audiometric abnormalities in children with Gaucher disease type 3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Mitochondrial defects and hearing loss

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Hearing loss in Pompe disease revisited: results from a study of 24 children

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Hearing in adults with Pompe disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

The natural course of non-classic Pompe's disease; a review of 225 published cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Age- and gender-specific reference ranges for hearing level and longitudinal changes in hearing level.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Screening adults aged 50 years or older for hearing loss: a review of the evidence for the U.S. preventive services task force

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Dynamic slow motion video endoscopy in eustachian tube assessment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.024

10.1016/J.YMGME.2012.07.024

7 January 2021

Identifiers

DOI

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11 February 2018

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11 February 2018