Literature DB >> 1770788

5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome.

P Divry1, F Roulaud-Parrot, C Dorche, M T Zabot, B Contraire, L Hagenfeldt, A Larsson.   

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Year:  1991        PMID： 1770788     DOI： 10.1007/bf01811698

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


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  8 in total

1.  Erythrocyte glutathione synthetase in 5-oxoprolinuria: kinetic studies of the mutant enzyme and detection of heterozygotes.

Authors:  A Larsson; R Zetterström; H Hörnell; U Porath
Journal:  Clin Chim Acta       Date:  1976-11-15       Impact factor: 3.786

2.  5-oxoprolinuria: biochemical observations and case report.

Authors:  S P Spielberg; L I Kramer; S I Goodman; J Butler; F Tietze; P Quinn; J D Schulman
Journal:  J Pediatr       Date:  1977-08       Impact factor: 4.406

3.  Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism.

Authors:  A Larsson; R Zetterström; L Hagenfeldt; R Andersson; S Dreborg; H Hörnell
Journal:  Pediatr Res       Date:  1974-10       Impact factor: 3.756

4.  Pyroglutamic aciduria--a new inborn error of metabolism.

Authors:  E Jellum; T Kluge; H C Börresen; O Stokke; L Eldjarn
Journal:  Scand J Clin Lab Invest       Date:  1970-12       Impact factor: 1.713

5.  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

6.  Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.

Authors:  J T Prchal; W M Crist; M Roper; V P Wellner
Journal:  Blood       Date:  1983-10       Impact factor: 22.113

7.  [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

8.  Neonatal 5-oxoprolinuria: difficult-to-diagnose?

Authors:  I S Mendelson; E Christie; W A Zaleski; S L MacKenzie; V P Wellner; A Meister
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982
  8 in total
  2 in total

1.  Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.

Authors:  A J Lloyd; R G Gray; A Green
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

2.  Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.

Authors:  Paldeep S Atwal; Casey R Medina; Lindsay C Burrage; V Reid Sutton
Journal:  J Hum Genet       Date:  2016-03-17       Impact factor: 3.172
  2 in total

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