|1.||Larsson, Agne: 3 articles (02/2009 - 07/2004)|
|2.||Ristoff, Ellinor: 3 articles (02/2009 - 07/2005)|
|3.||Ristoff, E: 3 articles (02/2007 - 01/2004)|
|4.||Larsson, A: 2 articles (02/2007 - 01/2004)|
|5.||Carlsson, Katarina: 2 articles (07/2005 - 07/2004)|
|6.||Njålsson, Runa: 2 articles (02/2005 - 07/2004)|
|7.||Norgren, Svante: 2 articles (02/2005 - 07/2004)|
|8.||Mayatepek, E: 2 articles (01/2005 - 02/2000)|
|9.||Manning, Nigel: 1 article (12/2015)|
|10.||Yap, Sufin: 1 article (12/2015)|
01/01/2007 - "She improved and liver function tests normalized in the next six days, but compensated metabolic acidosis and massive 5-oxoprolinuria persisted. "
03/01/2012 - "5-Oxoprolinuria as a cause of high anion gap metabolic acidosis."
11/01/2011 - "Pyroglutamic aciduria is a rare and probably under-recognised cause of metabolic acidosis which may be precipitated by certain common drugs."
11/01/2011 - "Pyroglutamic aciduria: a cause of high anion-gap metabolic acidosis associated with common drugs."
02/01/2005 - "Patients present with a clinical picture ranging from compensated haemolytic anaemia to a complex disorder with additional symptoms like 5-oxoprolinuria, metabolic acidosis and central nervous system impairment. "
|2.||Retinitis Pigmentosa (Pigmentary Retinopathy)
|3.||Metabolic Diseases (Metabolic Disease)
12/01/2001 - "In the present study we investigated the effects of L-pyroglutamic acid (PGA), which predominantly accumulates in the inherited metabolic diseases glutathione synthetase deficiency (GSD) and gamma-glutamylcysteine synthetase deficiency (GCSD), on some in vitro parameters of energy metabolism and lipid biosynthesis. "
02/01/2015 - "Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency."
04/24/1998 - "These patients have metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and about 50% of them also have progressive neurological symptoms. "
10/01/1983 - "Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency."
06/01/2010 - "5-Oxoproline accumulates in glutathione synthetase deficiency, an autossomic recessive inherited disorder clinically characterized by hemolytic anemia, metabolic acidosis, and severe neurological symptoms whose mechanisms are poorly known. "
06/01/1999 - "GSSD results in low glutathione levels in erythrocytes and may present with hemolytic anemia alone or together with pyroglutamic aciduria, metabolic acidosis, and CNS damage. "
|5.||Inborn Errors Metabolism (Inborn Errors of Metabolism)
03/01/1999 - "However, several other inborn errors of metabolism and pathophysiological conditions must be taken into account when discovering 5-oxoprolinuria."
07/01/2005 - "Inborn errors of metabolism in the gamma-glutamyl cycle causing recurrent 5-oxoprolinuria and high anion gap metabolic acidosis are rare, but well described in children. "
01/01/1995 - "Patients with two apparently unrelated inborn errors of metabolism, tyrosinaemia type 1 and glutathione synthetase deficiency, have been reported to show reduced cell glutathione concentrations. "
01/01/1989 - "Several other inborn errors of metabolism have been discovered in Norway: familial lecithin-cholesterol acyltransferase deficiency, methylmalonic acidemia, beta-methylcrotonyl-coenzyme A carboxylase deficiency, pyroglutamic aciduria, and N-acetyl aspartic aciduria. "
02/25/2000 - "We analysed leukotrienes in cerebrospinal fluid of patients with a broad spectrum of other well-defined inborn errors of metabolism, including glutathione synthetase deficiency (n=2), Zellweger syndrome (n=3), mitochondrial disorders (n=8), fatty acid oxidation defects (n=7), organic acidurias (n=7), neurotransmitter defects (n=5) and patients with non-specific neurological symptoms, as a reference population (n=120). "
|1.||Pyrrolidonecarboxylic Acid (Pyroglutamic Acid)
|2.||Prostaglandins A (PGA)
|5.||Glutathione synthetase deficiency
|7.||Glutathione (Reduced Glutathione)
|8.||Glutathione Synthase (Glutathione Synthetase)