Inborn errors in the metabolism of glutathione (Q21203014)

Dimensions Publication ID

Dimensions

1002274888

18 August 2022

Agne Larsson

series ordinal

2

author given names

Agne

author last names

Larsson

1 reference

Dimensions Publication ID

Dimensions

1002274888

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

30 March 2007

3 references

24 March 2019

22 April 2019

20 November 2019

3 references

24 March 2019

22 April 2019

20 November 2019

2

0 references

issue

1

0 references

page(s)

16

0 references

copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

on focus list of Wikimedia project

20 November 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

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A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production

19 March 2017

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19 March 2017

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Molecular basis of glutathione synthetase deficiency and a rare gene permutation event

19 March 2017

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Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

19 March 2017

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Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia

19 March 2017

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Interconversion of leukotrienes catalyzed by purified gamma-glutamyl transpeptidase: concomitant formation of leukotriene D4 and gamma-glutamyl amino acids

19 March 2017

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Sequencing and expression of a cDNA for human glutathione synthetase

19 March 2017

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Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency

19 March 2017

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Initial characterization of the glutamate-cysteine ligase modifier subunit Gclm(-/-) knockout mouse. Novel model system for a severely compromised oxidative stress response

19 March 2017

1 reference

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Long-term clinical outcome in patients with glutathione synthetase deficiency

19 March 2017

1 reference

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Knockout of the mouse glutamate cysteine ligase catalytic subunit (Gclc) gene: embryonic lethal when homozygous, and proposed model for moderate glutathione deficiency when heterozygous

19 March 2017

1 reference

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Glutathione synthesis is essential for mouse development but not for cell growth in culture

19 March 2017

1 reference

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A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia

19 March 2017

1 reference

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The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency

19 March 2017

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

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Mechanisms of L-cysteine neurotoxicity

19 March 2017

1 reference

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Urinary excretion of 5-oxoproline (pyroglutamic aciduria) as an index of glycine insufficiency in normal man.

12 September 2017

1 reference

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Glutathionuria: Inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase

12 September 2017

1 reference

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Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency

12 September 2017

1 reference

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Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Prenatal analysis in two suspected cases of glutathione synthetase deficiency.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Prenatal diagnosis of glutathione synthase deficiency

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Accumulation of pyroglutamic acid (5-oxoproline) in homocystinuria.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Identification by mass spectrometry of pyroglutamic acid as a peak in the gas chromatography of human urine

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Ectoenzymes of the kidney microvillar membrane. Affinity purification, characterization and localization of the phospholipase C-solubilized form of renal dipeptidase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Assignment of the human renal dipeptidase gene (DPEP1) to band q24 of chromosome 16

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

A patient with neurological symptoms and abnormal leukotriene metabolism: a new defect in leukotriene biosynthesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Two Japanese brothers with hereditary gamma-glutamyl transpeptidase deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Surgical trauma decreases glutathione synthetic capacity in human skeletal muscle tissue.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Urinary excretion of 5-L-oxoproline (pyroglutamic acid) during early life in term and preterm infants

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Serum gamma-glutamyl transpeptidase deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852094

Siblings with gamma-glutamyltransferase deficiency

29 November 2018

1 reference

12 December 2020

Reproductive defects in gamma-glutamyl transpeptidase-deficient mice

1 reference

12 December 2020

The structure of the human glutathione synthetase gene

1 reference

12 December 2020

5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle

1 reference

12 December 2020

Pyroglutamic aciduria and nephropathic cystinosis

1 reference

12 December 2020

Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency

1 reference

12 December 2020

Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency

1 reference

12 December 2020

Increased pyroglutamic acid levels in patients on artificial diets

1 reference

12 December 2020

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

1 reference

12 December 2020

Glutathionuria: γ‐Glutamyl transpeptidase deficiency

1 reference

12 December 2020

Determination of glutathione and glutathione disulfide in biological samples

1 reference

12 December 2020

Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis

1 reference

12 December 2020

Pyroglutamicaciduria from vigabatrin

1 reference

12 December 2020

Transient 5-oxoprolinuria in a very low-birthweight infant

1 reference

12 December 2020

Catalytic and regulatory properties of the heavy subunit of rat kidney gamma-glutamylcysteine synthetase

1 reference

12 December 2020

Induction of 5-oxoprolinuria in the rat following chronic feeding with N -acetyl 4-aminophenol (paracetamol)

1 reference

12 December 2020

Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency

1 reference

12 December 2020