(Q34171646)

31 July 2017

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency (English)

1 reference

31 July 2017

S Lucchiari

1

1 reference

31 July 2017

D Santoro

series ordinal

2

1 reference

31 July 2017

S Pagliarani

series ordinal

3

1 reference

31 July 2017

G P Comi

series ordinal

4

1 reference

31 July 2017

1 July 2007

1 reference

31 July 2017

1 reference

31 July 2017

26

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31 July 2017

1

1 reference

31 July 2017

72-74

1 reference

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949315

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949315

Preparation and properties of the glycogen-debranching enzyme from rabbit liver

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949315

Assignment of the human glycogen debrancher gene to chromosome 1p21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949315

Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949315

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949315

Glycogen storage disease; report of a case with abnormal glycogen structure in liver and skeletal muscle

28 October 2018

1 reference

12 December 2020

Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen

1 reference

12 December 2020

Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group

1 reference

12 December 2020

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

1 reference

12 December 2020

Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy

1 reference

12 December 2020

Identifiers

PMCID

2949315

1 reference

31 July 2017

1 reference