Literature DB >> 6790862

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

R A Roesel, F A Hommes, L Samper.   

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Year:  1981        PMID: 6790862     DOI: 10.1007/BF02263605

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  4 in total

1.  Enzymic method for quantitative determination of nanogram amounts of total and oxidized glutathione: applications to mammalian blood and other tissues.

Authors:  F Tietze
Journal:  Anal Biochem       Date:  1969-03       Impact factor: 3.365

2.  The metabolism of L-pyroglutamic acid in fibroblasts from a patient with pyroglutamic aciduria: the demonstration of an L-pyroglutamate hydrolase system.

Authors:  J H Strömme; L Eldjarn
Journal:  Scand J Clin Lab Invest       Date:  1972-05       Impact factor: 1.713

3.  [Glutathion-synthetase deficiency with 5-oxoprolinuria. Two new cases and a review of the literature (author's transl)].

Authors:  P Boivin; C Galand; G Schaison
Journal:  Nouv Presse Med       Date:  1978-05-06

4.  Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).

Authors:  V P Wellner; R Sekura; A Meister; A Larsson
Journal:  Proc Natl Acad Sci U S A       Date:  1974-06       Impact factor: 11.205

  4 in total
  7 in total

1.  5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.

Authors:  E Mayatepek; G F Hoffmann; A Larsson; K Becker; H J Bremer
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

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

Authors:  F P Bernier; F F Snyder; D R McLeod
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

Authors:  Eduardo Calpena; Mercedes Casado; Dolores Martínez-Rubio; Andrés Nascimento; Jaume Colomer; Eva Gargallo; Angels García-Cazorla; Francesc Palau; Rafael Artuch; Carmen Espinós
Journal:  JIMD Rep       Date:  2012-07-06

4.  New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.

Authors:  Eduardo Calpena; Anup Arunrao Deshpande; Sufin Yap; Akhilesh Kumar; Nigel J Manning; Anand K Bachhawat; Carmen Espinós
Journal:  Eur J Pediatr       Date:  2014-08-17       Impact factor: 3.183

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

Authors:  M J Henderson; A Larsson; B Carlsson; P R Dear
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 6.  Inborn errors in the metabolism of glutathione.

Authors:  Ellinor Ristoff; Agne Larsson
Journal:  Orphanet J Rare Dis       Date:  2007-03-30       Impact factor: 4.123

7.  Mendelian Randomization Study on Causal Association of Pyroglutamine with COVID-19.

Authors:  Wenting Su; Shan Zhou; Gaizhi Zhu; Yaqi Xu; Ran Gao; Min Zhang; Qi Zeng; Renxi Wang
Journal:  J Epidemiol Glob Health       Date:  2022-10-11
  7 in total

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