Literature DB >> 8127060

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

M J Henderson1, A Larsson, B Carlsson, P R Dear.   

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Year:  1993        PMID： 8127060     DOI： 10.1007/bf00711529

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


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  2 in total

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

Authors:  R A Roesel; F A Hommes; L Samper
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

2.  5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle.

Authors:  A Larsson; B Mattsson; E A Wauters; J D van Gool; M Duran; S K Wadman
Journal:  Acta Paediatr Scand       Date:  1981
  2 in total
  5 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

Review 5.  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
  5 in total

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