(Q38155413)

English

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

scientific article published on 25 October 2013

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scholarly article

1 reference

Europe PubMed Central

29 August 2017

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 (English)

1 reference

Europe PubMed Central

29 August 2017

0 references

glycogen storage disease

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Costanza Lamperti

4

object named as

Costanza Lamperti

1 reference

Europe PubMed Central

29 August 2017

7

object named as

Nereo Bresolin

1 reference

Europe PubMed Central

29 August 2017

Maurizio Moggio

6

object named as

Maurizio Moggio

1 reference

Europe PubMed Central

29 August 2017

Andreina Bordoni

5

object named as

Andreina Bordoni

1 reference

Europe PubMed Central

29 August 2017

author name string

Gauthier Remiche

1

1 reference

Europe PubMed Central

29 August 2017

Dario Ronchi

2

1 reference

Europe PubMed Central

29 August 2017

Francesca Magri

3

1 reference

Europe PubMed Central

29 August 2017

Giacomo P Comi

8

1 reference

Europe PubMed Central

29 August 2017

publication date

25 October 2013

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Europe PubMed Central

29 August 2017

Journal of Neurology

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Europe PubMed Central

29 August 2017

261

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Europe PubMed Central

29 August 2017

83-97

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Europe PubMed Central

29 August 2017

1

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Europe PubMed Central

29 August 2017

https://scigraph.springernature.com/pub.10.1007/s00415-013-7137-2

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Diagnosis of glycogenosis type II.

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

The spectrum and diagnosis of acid maltase deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Toward deconstructing the phenotype of late-onset Pompe disease.

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Pompe's disease

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Rapid progressive course of later-onset Pompe disease in Chinese patients.

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Genotype-phenotype correlation in adult-onset acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Pompe disease: Design, methodology, and early findings from the Pompe Registry

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Muscle MRI in adult-onset acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7137-2

21 January 2018

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven cases of Pompe disease from Greece

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A diagnostic protocol for adult-onset glycogen storage disease type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of late-onset Pompe disease: a prospective cohort study

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Body composition analysis in late-onset Pompe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How common is misdiagnosis in late-onset Pompe disease?

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne's muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of late onset glycogen storage disease II in Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/24158270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00415-013-7137-2

1 reference

Europe PubMed Central

29 August 2017

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0 references

1 reference

Europe PubMed Central

29 August 2017

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