(Q74811878)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

review article

1 reference

title

Patients with genetic defects in the gamma-glutamyl cycle (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

author name string

E Ristoff

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

A Larsson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

publication date

1 April 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

Chemico-biological Interactions

13 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

volume

111-112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

page(s)

113-121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

γ-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia

13 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Cloning and nucleotide sequence of a full-length cDNA for human liver gamma-glutamylcysteine synthetase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Cloning and sequencing of the cDNA for the light subunit of human liver gamma-glutamylcysteine synthetase and relative mRNA levels for heavy and light subunits in human normal tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

The gamma-glutamyl cycle: a possible transport system for amino acids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Pyroglutamic aciduria--a new inborn error of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Sequencing and expression of a cDNA for human glutathione synthetase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Amino acid sequence of rat kidney glutathione synthetase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Molecular cloning of the large subunit of glutathione synthetase from Xenopus laevis embryos

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Hereditary absence of reduced glutathione in the erythrocytes - a new clinical and biochemical entity? (Preliminary communication)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

The cerebral lesions in a patient with generalized glutathione deficiency and pyroglutamic aciduria (5-oxoprolinuria)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Serum gamma-glutamyl transpeptidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Glutathionuria: γ‐Glutamyl transpeptidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Siblings with gamma-glutamyltransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-2797%2897%2900155-5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0009-2797(97)00155-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9679548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference