(Q38993602)

8 September 2017

title

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa (English)

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8 September 2017

main subject

glycogen storage disease

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Yoriko Endo

1

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8 September 2017

Ekram Fateen

2

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8 September 2017

Yoshiko Aoyama

3

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8 September 2017

Asako Horinishi

4

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8 September 2017

Tetsu Ebara

5

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8 September 2017

Toshio Murase

6

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8 September 2017

Yoon S Shin

7

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8 September 2017

Minoru Okubo

8

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8 September 2017

language of work or name

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28 September 2005

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Journal of Human Genetics

8 September 2017

published in

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8 September 2017

volume

50

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8 September 2017

issue

10

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8 September 2017

page(s)

538-542

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Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms

8 September 2017

cites work

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12 December 2020

Arab genetic disease database (AGDDB): a population-specific clinical and mutation database

1 reference

12 December 2020

A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb

1 reference

12 December 2020

Molecular characterization of glycogen storage disease type III.

1 reference

12 December 2020

Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene.

1 reference

12 December 2020

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

1 reference

12 December 2020

Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient

1 reference

12 December 2020

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

1 reference

12 December 2020

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin

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12 December 2020

Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

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12 December 2020

Diagnosis of glycogen storage disease

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12 December 2020

A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III

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12 December 2020

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

1 reference

12 December 2020

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

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12 December 2020

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region

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12 December 2020

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III

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12 December 2020

10.1007/S10038-005-0291-3

Identifiers

DOI

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8 September 2017

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