(Q36342315)

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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

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

12

object named as

Eugen Mengel

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

author name string

Andreas Herzog

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Ralf Hartung

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Arnold J J Reuser

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Pia Hermanns

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Heiko Runz

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Nesrin Karabul

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Seyfullah Gökce

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Joachim Pohlenz

8

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Christoph Kampmann

9

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Christina Lampe

10

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Michael Beck

11

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

publication date

7 June 2012

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

35

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-35

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

RNA and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

The effect of muscle loading on skeletal muscle regenerative potential: an update of current research findings relating to aging and neuromuscular pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Pompe disease: a neuromuscular disease with respiratory muscle involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Chromosome 2q37 deletion: clinical and molecular aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Plasticity of human skeletal muscle: gene expression to in vivo function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

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=3479421

30 September 2017

Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

30 September 2017

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=3479421

29 June 2018

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

29 June 2018

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

22 September 2018

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

22 September 2018

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

22 September 2018

Delayed or late-onset type II glycogenosis with globular inclusions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

22 September 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

22 September 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

22 September 2018

Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479421

22 September 2018

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-35

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-35

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/10.1186%2F1750-1172-7-35

21 January 2018

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22676651

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/22676651

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/22676651

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/22676651

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/22676651

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/22676651

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22676651

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/22676651

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/22676651

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-7-35

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

0 references

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