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Quoted phrase not found in phrase index: "Glutathione synthetase deficiency without 5-oxoprolinuria"
Page 1
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A. Ristoff E, et al. Orphanet J Rare Dis. 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. Orphanet J Rare Dis. 2007. PMID: 17397529 Free PMC article. Review.
In man, hereditary deficiencies have been found in five of the six enzymes. Glutathione synthetase deficiency is the most frequently recognized disorder and, in its severe form, it is associated with hemolytic anemia, metabolic acidosis, 5-oxoprolinuria, cent …
In man, hereditary deficiencies have been found in five of the six enzymes. Glutathione synthetase deficiency is the mo …
Role of membrane vitamin E and cytoplasmic glutathione in the regulation of phagocytic functions of neutrophils and monocytes.
Baehner RL, Boxer LA. Baehner RL, et al. Am J Pediatr Hematol Oncol. 1979 Spring;1(1):71-6. Am J Pediatr Hematol Oncol. 1979. PMID: 396794 Review.
To accomplish their role in inflammation, they must respond appropriately to chemotactic signals elaborated from complement and bacteria. This response predictably results in the adherence and subsequent directed movement of the phagocytes toward the infected area where th …
To accomplish their role in inflammation, they must respond appropriately to chemotactic signals elaborated from complement and bacteria. Th …
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Ben Ameur S, Aloulou H, Nasrallah F, Kamoun T, Kaabachi N, Hachicha M. Ben Ameur S, et al. Fetal Pediatr Pathol. 2015 Feb;34(1):18-20. doi: 10.3109/15513815.2014.947543. Epub 2014 Aug 28. Fetal Pediatr Pathol. 2015. PMID: 25166299
Glutathione synthetase deficiency (GSSD) is a rare disorder of glutathione metabolism with varying clinical severity. ...Diagnosis is made by clinical presentation and detection of elevated concentrations of 5-oxoproline in urine and low glutathione synthetas …
Glutathione synthetase deficiency (GSSD) is a rare disorder of glutathione metabolism with varying clinical severity. . …
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
Njålsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S. Njålsson R, et al. Hum Genet. 2005 Apr;116(5):384-9. doi: 10.1007/s00439-005-1255-6. Epub 2005 Feb 17. Hum Genet. 2005. PMID: 15717202
The data indicate that additional genetic or environmental factors modify at least the moderate and severe phenotypes and that the clinical classification given to the patients may be influenced by variation in follow-up. The type of mutation involved can, to some extent, pred …
The data indicate that additional genetic or environmental factors modify at least the moderate and severe phenotypes and that the clinical …
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. ...
BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthet …
A case of severe glutathione synthetase deficiency with novel GSS mutations.
Xia H, Ye J, Wang L, Zhu J, He Z. Xia H, et al. Braz J Med Biol Res. 2018 Jan 11;51(3):e6853. doi: 10.1590/1414-431X20176853. Braz J Med Biol Res. 2018. PMID: 29340523 Free PMC article.
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. ...However, he maintained a variable degree of metabolic acidosis and succumbed shortly after his parents requested discontinuation …
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inhe …
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. ...
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Gündüz M, Ünal Ö, Kavurt S, Türk E, Mungan NÖ. Gündüz M, et al. J Pediatr Endocrinol Metab. 2016 Apr;29(4):481-5. doi: 10.1515/jpem-2015-0308. J Pediatr Endocrinol Metab. 2016. PMID: 26669244
CONCLUSIONS: The clinical picture varies from patient to patient, so it is difficult to predict the prognosis and the effectiveness of treatment protocols. ...
CONCLUSIONS: The clinical picture varies from patient to patient, so it is difficult to predict the prognosis and the effectiv …
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
Njålsson R, Carlsson K, Olin B, Carlsson B, Whitbread L, Polekhina G, Parker MW, Norgren S, Mannervik B, Board PG, Larsson A. Njålsson R, et al. Biochem J. 2000 Jul 1;349(Pt 1):275-9. doi: 10.1042/0264-6021:3490275. Biochem J. 2000. PMID: 10861239 Free PMC article.
One of the mutations predominantly affected the K(m) value, with decreased affinity for glycine, two mutations influenced both K(m) and V(max) values, and one mutation reduced the stability of the enzyme. This characterization agrees well with predictions based on the rece …
One of the mutations predominantly affected the K(m) value, with decreased affinity for glycine, two mutations influenced both K(m) and V(ma …
12 results