(Q43121611)

14 November 2017

title

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

1 reference

14 November 2017

4

1 reference

14 November 2017

5

Arrigo Moglia

1 reference

14 November 2017

Paola de Filippi

1

1 reference

14 November 2017

Sabrina Ravaglia

2

1 reference

14 November 2017

Bruno Bembi

3

1 reference

14 November 2017

Giovanni Piccolo

6

1 reference

14 November 2017

Alessandra Repetto

7

1 reference

14 November 2017

Andrea Dardis

8

1 reference

14 November 2017

Giuseppe Greco

9

1 reference

14 November 2017

Giovanni Ciana

10

1 reference

14 November 2017

Francesco Canevari

11

1 reference

14 November 2017

Cesare Danesino

12

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 April 2010

1 reference

14 November 2017

1 reference

14 November 2017

volume

12

1 reference

14 November 2017

issue

4

1 reference

14 November 2017

page(s)

206-211

1 reference

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181d2900e

14 November 2017

exact match

0 references

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Biomechanical muscle properties and angiotensin-converting enzyme gene polymorphism: a model-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Three-dimensional structure of the ion-coupled transport protein NhaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Genotype modulators of clinical severity in McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Phenotype modulators in myophosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Fatigue: an important feature of late-onset Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Muscle pain in myophosphorylase deficiency (McArdle's disease): the role of gender, genotype, and pain-related coping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

The ACE I/D polymorphism and human physical performance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Skeletal muscle fibre-type shifting and metabolic profile in patients with chronic obstructive pulmonary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

Sibling phenotype concordance in classical infantile Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D2900E

10.1097/GIM.0B013E3181D2900E

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

14 November 2017

1047046336

0 references

1 reference