Literature DB >> 8803782

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

F P Bernier1, F F Snyder, D R McLeod.   

Abstract

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Year:  1996        PMID： 8803782     DOI： 10.1007/bf01799269

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


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  4 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.  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

3.  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

4.  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
  4 in total
  3 in total

1.  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

2.  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 3.  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
  3 in total

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