(Q35531048)

English

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation

scientific article published on 20 December 2014

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation (English)

1 reference

Europe PubMed Central

8 August 2017

author name string

Xiao Liu

1

1 reference

Europe PubMed Central

8 August 2017

Zhaoxia Wang

2

1 reference

Europe PubMed Central

8 August 2017

Weina Jin

3

1 reference

Europe PubMed Central

8 August 2017

He Lv

4

1 reference

Europe PubMed Central

8 August 2017

Wei Zhang

5

1 reference

Europe PubMed Central

8 August 2017

Chengli Que

6

1 reference

Europe PubMed Central

8 August 2017

Yu Huang

7

1 reference

Europe PubMed Central

8 August 2017

Yun Yuan

8

1 reference

Europe PubMed Central

8 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

20 December 2014

1 reference

Europe PubMed Central

8 August 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

15

1 reference

Europe PubMed Central

8 August 2017

141

1 reference

Europe PubMed Central

8 August 2017

copyright license

Creative Commons Attribution 4.0 International

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1186/s12881-014-0141-2

0 references

Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

The respiratory neuromuscular system in Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

The genotype-phenotype correlation in Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

Newborn screening for Pompe disease in Japan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

27 July 2018

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 2018

Phenotypical variation within 22 families with Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 2018

Juvenile Pompe disease: retrospective clinical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 2018

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 2018

Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 2018

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 2018

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 2018

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411720

26 September 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/10.1186%2FS12881-014-0141-2

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25526786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/25526786

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/25526786

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/25526786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25526786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25526786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S12881-014-0141-2

1 reference

Europe PubMed Central

8 August 2017

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1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

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