Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. (Q36974084)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

author name string

Claudio Bruno

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Hans-Christian Schneider

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Yoon S Shin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Teodor Podskarbi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Lev Goldfarb

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Wolfgang Müller-Felber

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Josef Müller-Höcker

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

publication date

8 August 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

12 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

page(s)

52-58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

Glycogen storage disease: clinical, biochemical, and molecular heterogeneity

12 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Control of glycogen deposition.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome

29 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

29 September 2017

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.005

Phosphofructokinase deficiency; past, present and future

7 January 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Human muscle glycogen synthase cDNA sequence: a negatively charged protein with an asymmetric charge distribution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Glycogen storage disease type IV, amylopectinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

A mild juvenile variant of type IV glycogenosis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583439

Surprises of genetic engineering: a possible model of polyglucosan body disease

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.005

Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.005

Type IV glycogenosis (amylopectinosis). Light and electron microscopic observations

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18691923

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Juvenile polysaccharidosis with cardioskeletal myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18691923

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2008.07.005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18691923%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference