Literature DB >> 4415411

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

A Larsson, R Zetterström, L Hagenfeldt, R Andersson, S Dreborg, H Hörnell.   

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Year:  1974        PMID： 4415411     DOI： 10.1203/00006450-197410000-00007

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  10 in total

1.  Generalized glutathione synthetase deficiency and pregnancy.

Authors:  E Ristoff; C Augustson; A Larsson
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

2.  5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome.

Authors:  P Divry; F Roulaud-Parrot; C Dorche; M T Zabot; B Contraire; L Hagenfeldt; A Larsson
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 3.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

4.  Biochemical heterogeneity in glutathione synthetase deficiency.

Authors:  S P Spielberg; M D Garrick; L M Corash; J D Butler; F Tietze; L Rogers; J D Schulman
Journal:  J Clin Invest       Date:  1978-06       Impact factor: 14.808

5.  A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).

Authors:  J Mårtensson; J Gustafsson; A Larsson
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.

Authors:  T Katsube; N Sakamoto; Y Kobayashi; R Seki; M Hirano; K Tanishima; A Tomoda; E Takazakura; T Yubisui; M Takeshita
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

Review 7.  Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.

Authors:  Namgyu Lee; Dohoon Kim
Journal:  Metabolites       Date:  2022-06-08

8.  Prenatal analysis in two suspected cases of glutathione synthetase deficiency.

Authors:  E Erasmus; L J Mienie; W N de Vries; W J de Wet; B Carlsson; A Larsson
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  The cerebral lesions in a patient with generalized glutathione deficiency and pyroglutamic aciduria (5-oxoprolinuria).

Authors:  K Skullerud; S Marstein; H Schrader; P J Brundelet; E Jellum
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

10.  Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.

Authors:  E Beutler; T Gelbart; C Pegelow
Journal:  J Clin Invest       Date:  1986-01       Impact factor: 14.808
  10 in total

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