Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy. (Q39175239)

9 September 2017

Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy. (English)

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9 September 2017

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Masato Tamai

1

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9 September 2017

Takeshi Kawano

2

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9 September 2017

Ryota Saito

3

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9 September 2017

Ken Sakurai

4

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9 September 2017

Yoshihiro Saito

5

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9 September 2017

Hisashi Yamada

6

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9 September 2017

Hiroyuki Ida

7

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9 September 2017

Masaharu Akiyama

8

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9 September 2017

17 June 2014

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International Journal of Hematology

9 September 2017

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9 September 2017

100

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9 September 2017

4

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9 September 2017

393-397

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https://scigraph.springernature.com/pub.10.1007/s12185-014-1615-x

9 September 2017

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https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

A 1.8 A resolution structure of pig muscle 3-phosphoglycerate kinase with bound MgADP and 3-phosphoglycerate in open conformation: new insight into the role of the nucleotide in domain closure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-014-1615-X

Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation

21 January 2018

1 reference

12 December 2020

Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

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12 December 2020

Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3.

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12 December 2020

A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria

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12 December 2020

Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation

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12 December 2020

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)

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12 December 2020

A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency

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12 December 2020

A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia

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12 December 2020

A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.

1 reference

12 December 2020

10.1007/S12185-014-1615-X

Identifiers

DOI

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9 September 2017

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