(Q24596039)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Neuromuscular forms of glycogen branching enzyme deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

C Bruno

1

1 reference

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8 January 2020

D Cassandrini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

S Assereto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

H Orhan Akman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

C Minetti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

S Di Mauro

6

1 reference

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8 January 2020

language of work or name

English

0 references

publication date

1 July 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

26

1 reference

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8 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

75-78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

8 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=2949312

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Familial cirrhosis of the liver with storage of abnormal glycogen

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Muscle glycogenoses: an overview.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Adult polyglucosan body disease: a case report of a manifesting heterozygote

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Glycogen branching enzyme deficiency in quarter horse foals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Molecular diagnosis of inherited neuromuscular disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Adult Polyglucosan Body Myopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

A mild juvenile variant of type IV glycogenosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

A neonatal form of glycogen storage disease type IV.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949312

Glycogen branching enzyme deficiency in adult polyglucosan body disease

28 November 2018

1 reference

12 December 2020

Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

1 reference

12 December 2020

Non-lethal congenital hypotonia due to glycogen storage disease type IV

1 reference

12 December 2020

Prenatal diagnosis of glycogen storage disease type IV

1 reference

12 December 2020

Glycogenosis IV: A new cause of infantile hypotonia

1 reference

12 December 2020

Severe cardiopathy in branching enzyme deficiency

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915577%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

17915577

1 reference