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Quoted phrase not found in phrase index: "Glutathione synthetase deficiency without 5-oxoprolinuria"
Page 1
Glutathione synthetase deficiency.
Njålsson R. Njålsson R. Cell Mol Life Sci. 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7. Cell Mol Life Sci. 2005. PMID: 15990954 Free PMC article. Review.
Moderately and severely affected patients have mutations that compromise the catalytic properties of the enzyme. 5-Oxoprolinuria appears in all three groups, but is more pronounced in the two latter groups. ...
Moderately and severely affected patients have mutations that compromise the catalytic properties of the enzyme. 5-Oxoprolinuria …
Glutathione synthetase-deficient lymphocytes and acetaminophen toxicity.
Spielberg SP, Gordon GB. Spielberg SP, et al. Clin Pharmacol Ther. 1981 Jan;29(1):51-5. doi: 10.1038/clpt.1981.9. Clin Pharmacol Ther. 1981. PMID: 7460474
Toxic electrophilic metabolites of acetaminophen are detoxified by conjugation with glutathione. Cellular glutathione content of patients with glutathione synthetase deficiency (5-oxoprolinuria) is 10% to 20% of normal. ...The hypothesis was tes …
Toxic electrophilic metabolites of acetaminophen are detoxified by conjugation with glutathione. Cellular glutathione content of patients wi …
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.
Ekuni S, Hirayama K, Nagasaka M, Osumi K, Kondo H, Nakahara E, Shimojima Yamamoto K, Kanno H, Katayama Y. Ekuni S, et al. Am J Case Rep. 2023 Apr 13;24:e938396. doi: 10.12659/AJCR.938396. Am J Case Rep. 2023. PMID: 37050856 Free PMC article.
BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthetase (GSS) gene variants that occur in 1 in 1 million individuals. The severe form of GSD is characterized by hemolytic anemia, metabolic aci …
BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthet …
Acetaminophen toxicity in lymphocytes heterozygous for glutathione synthetase deficiency.
Spielberg SP. Spielberg SP. Can J Physiol Pharmacol. 1985 May;63(5):468-71. doi: 10.1139/y85-081. Can J Physiol Pharmacol. 1985. PMID: 4041989
We have studied the effects of acetaminophen metabolites generated by a murine hepatic microsomal system on lymphocytes from two subjects heterozygous for glutathione synthetase deficiency. Heterozygous cells exhibited greater dose-related toxicity than contr …
We have studied the effects of acetaminophen metabolites generated by a murine hepatic microsomal system on lymphocytes from two subjects he …
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Atwal PS, Medina CR, Burrage LC, Sutton VR. Atwal PS, et al. J Hum Genet. 2016 Jul;61(7):669-72. doi: 10.1038/jhg.2016.20. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984560 Free PMC article.
Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the …
Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an …
Glutathione synthetase deficiency: a family report.
Pejaver RK, Watson AH. Pejaver RK, et al. J R Soc Med. 1994 Mar;87(3):171. doi: 10.1177/014107689408700321. J R Soc Med. 1994. PMID: 8158601 Free PMC article.
Glutathione synthetase deficiency is a rare inborn error of metabolism. ...
Glutathione synthetase deficiency is a rare inborn error of metabolism. ...
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
Lloyd AJ, Gray RG, Green A. Lloyd AJ, et al. J Inherit Metab Dis. 1995;18(1):48-55. doi: 10.1007/BF00711372. J Inherit Metab Dis. 1995. PMID: 7623442
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. ...Our results suggest that the availability of thiol groups may …
Patients with two apparently unrelated inborn errors of metabolism, tyrosinaemia type 1 and glutathione synthetase deficien …
Nitrofurantoin cytotoxicity. In vitro assessment of risk based on glutathione metabolism.
Spielberg SP, Gordon GB. Spielberg SP, et al. J Clin Invest. 1981 Jan;67(1):37-41. doi: 10.1172/JCI110030. J Clin Invest. 1981. PMID: 7451657 Free PMC article.
The metabolite caused a dose-dependent depletion of lymphocyte glutathione content. Cells from a patient with glutathione synthetase deficiency showed markedly enhanced nitrofurantoin toxicity. ...
The metabolite caused a dose-dependent depletion of lymphocyte glutathione content. Cells from a patient with glutathione syntheta …
Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency.
Mayatepek E, Zelezny R, Hoffmann GF. Mayatepek E, et al. Clin Chim Acta. 2000 Feb 25;292(1-2):155-62. doi: 10.1016/s0009-8981(99)00216-8. Clin Chim Acta. 2000. PMID: 10686285
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 oxidati …
We analysed leukotrienes in cerebrospinal fluid of patients with a broad spectrum of other well-defined inborn errors of metabolism, includi …