Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature (Q36133238)

12 August 2017

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title

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature (English)

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multicenter clinical trial

12 August 2017

main subject

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glycogen storage disease

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1

Daniela Melis

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Paola Marcolongo

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Paola Marcolongo

4

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author name string

Daniela Melis

1

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12 August 2017

Rossella Fulceri

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12 August 2017

Giancarlo Parenti

3

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12 August 2017

Rosanna Gatti

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Rossella Parini

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12 August 2017

Enrica Riva

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12 August 2017

Roberto Della Casa

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12 August 2017

Enrico Zammarchi

9

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12 August 2017

Generoso Andria

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12 August 2017

Angelo Benedetti

11

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12 August 2017

language of work or name

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19 May 2005

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European Journal of Pediatrics

12 August 2017

published in

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12 August 2017

volume

164

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12 August 2017

issue

8

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12 August 2017

page(s)

501-508

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Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex

12 August 2017

cites work

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12 December 2020

Glycogen storage disease type Ib without neutropenia.

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12 December 2020

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

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12 December 2020

Molecular diagnosis of type 1c glycogen storage disease

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12 December 2020

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

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12 December 2020

Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b.

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12 December 2020

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

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12 December 2020

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

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12 December 2020

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

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12 December 2020

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

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12 December 2020

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients

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12 December 2020

Mutation analysis in glycogen storage disease type 1 non-a

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12 December 2020

Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter

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12 December 2020

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11

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12 December 2020

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

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12 December 2020

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

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12 December 2020

Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs

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12 December 2020

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

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12 December 2020

Structure and mutation analysis of the glycogen storage disease type 1b gene.

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12 December 2020

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

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12 December 2020

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

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12 December 2020

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

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12 December 2020

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene

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12 December 2020

Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b.

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12 December 2020

Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

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12 December 2020

10.1007/S00431-005-1657-4

Identifiers

DOI

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12 August 2017

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