5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes (Q36617406)

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24 February 2020

title

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes (English)

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glutathione synthetase deficiency

24 February 2020

main subject

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24 February 2020

Dolores Martínez-Rubio

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24 February 2020

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24 February 2020

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24 February 2020

Mercedes Casado

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24 February 2020

Andrés Nascimento

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24 February 2020

Jaume Colomer

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24 February 2020

Eva Gargallo

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24 February 2020

Angels García-Cazorla

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24 February 2020

Rafael Artuch

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publication date

6 July 2012

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Journal of Inherited Metabolic Disorders Reports

24 February 2020

published in

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volume

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page(s)

123-128

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Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.

24 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

30 September 2017

1 reference

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OXP1/YKL215c encodes an ATP-dependent 5-oxoprolinase in Saccharomyces cerevisiae: functional characterization, domain structure and identification of actin-like ATP-binding motifs in eukaryotic 5-oxoprolinases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

Inborn errors in the metabolism of glutathione

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

Glutathione synthetase deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

Basic local alignment search tool

30 September 2017

1 reference

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Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

5-Oxoprolinase deficiency: report of the first human OPLAH mutation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575052

A molecular approach to dominance in hypophosphatasia

20 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency

1 reference

12 December 2020

Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities

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12 December 2020

Identifiers

DOI

10.1007/8904_2012_166

1 reference

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24 February 2020

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24 February 2020

PubMed publication ID

23430506

1 reference

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