(Q73141354)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

C Bruno

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M DiRocco

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

L D Lamba

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Bado

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C Marino

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Tsujino

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Shanske

7

1 reference

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1 November 2019

G Stella

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C Minetti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

O P van Diggelen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S DiMauro

11

1 reference

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1 November 2019

publication date

1 October 1999

1 reference

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1 November 2019

published in

Neuromuscular Disorders

1 reference

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1 November 2019

volume

9

1 reference

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1 November 2019

issue

6-7

1 reference

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1 November 2019

page(s)

403-407

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

A juvenile variant of glycogenosis IV (Andersen disease)

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Glycogenosis IV: A new cause of infantile hypotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

A congenital variant of glycogenosis type IV

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Report of a case with histochemical and electron microscopic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Severe cardiopathy in branching enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

A mild juvenile variant of type IV glycogenosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Myopathy with tremor and dementia: a metabolic disorder? Case report with postmortem study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Adult Polyglucosan Body Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

A mild adult myopathic variant of type IV glycogenosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with Type IV glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900040-1

7 January 2021

10.1016/S0960-8966(99)00040-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10545044%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference