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Quoted phrase not found in phrase index: "Deficiency of enolase"
Page 1
Evaluation of serum neuron specific enolase levels among patients with primary and secondary burning mouth syndrome.
Kishore J, Shaikh F, Zubairi AM, Mirza S, Alqutub MN, AlMubarak AM, Abduljabbar T, Vohra F. Kishore J, et al. Cephalalgia. 2022 Feb;42(2):119-127. doi: 10.1177/03331024211046613. Epub 2021 Oct 13. Cephalalgia. 2022. PMID: 34644195
Evidence on association of burning mouth syndrome and neuron-specific enolase is limited. AIM: This study aims to evaluate neuron-specific enolase levels in primary and secondary burning mouth syndrome patients and compare the levels of neuron-specific enolase …
Evidence on association of burning mouth syndrome and neuron-specific enolase is limited. AIM: This study aims to evaluate neuron-spe …
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. Am J Hum Genet. 2022. PMID: 35931051 Free PMC article.
Targeted genomic sequencing identified a specific haplotype and rare variants in the naturally occurring TYMS antisense regulator ENOSF1 (enolase super family 1) inherited from the other parent. Lymphoblastoid cells from affected probands have severe TYMS deficiency …
Targeted genomic sequencing identified a specific haplotype and rare variants in the naturally occurring TYMS antisense regulator ENOSF1 ( …
Tarui disease and distal glycogenoses: clinical and genetic update.
Toscano A, Musumeci O. Toscano A, et al. Acta Myol. 2007 Oct;26(2):105-7. Acta Myol. 2007. PMID: 18421897 Free PMC article. Review.
Phosphofructokinase deficiency (Tarui disease) was the first disorder recognized to directly affect glycolysis. ...Phosphoglycerate Kinase, Phosphoglycerate Mutase, Lactate Dehydrogenase, beta-Enolase and Aldolase A deficiencies have been described as distal …
Phosphofructokinase deficiency (Tarui disease) was the first disorder recognized to directly affect glycolysis. ...Phosphoglycerate K …
Autoimmune phenomena involving the pituitary gland in children: New developing data about diagnosis and treatment.
Romano A, Rigante D, Cipolla C. Romano A, et al. Autoimmun Rev. 2019 Oct;18(10):102363. doi: 10.1016/j.autrev.2019.102363. Epub 2019 Aug 8. Autoimmun Rev. 2019. PMID: 31401342 Review.
Potential target autoantigens studied in autoimmune hypophysitis have been various pituitary-specific factors, chaperone proteins, alpha-enolase, secretogranins, chorionic somatomammotropin and intracellular transcription factors. ...Growth hormone deficiency is fou …
Potential target autoantigens studied in autoimmune hypophysitis have been various pituitary-specific factors, chaperone proteins, alpha- …
Laboratory criteria of perinatal damage of central nervous system at premature newborns.
Petrashenko VA, Loboda AM, Smiyan OI, Popov SV, Kasyan SN, Zaitsev IE, Redko EK. Petrashenko VA, et al. Wiad Lek. 2019 Aug 31;72(8):1512-1516. Wiad Lek. 2019. PMID: 32012501
INTRODUCTION: Fetal and neonatal hypoxia takes a special place among the damaging factors of central nervous system (CNS). All forms of oxygen deficiency are accompanied by the development of bioenergetic hypoxia, which leads to tension of metabolic processes of the organi …
INTRODUCTION: Fetal and neonatal hypoxia takes a special place among the damaging factors of central nervous system (CNS). All forms of oxyg …
Disruption of Aspergillus fumigatus biofilm by Streptococcus pneumoniae: Mycelial fragmentation by hydrogen peroxide.
Iwahashi J, Kamei K, Watanabe H. Iwahashi J, et al. J Infect Chemother. 2020 Aug;26(8):831-837. doi: 10.1016/j.jiac.2020.03.015. Epub 2020 May 12. J Infect Chemother. 2020. PMID: 32414689
The pneumococcal culture supernatant contained mycelial fragmentation activity that was heat-sensitive. The culture supernatant of a mutant pneumococcal strain deficient in pneumolysin (deltaply) also exhibited the mycelial fragmentation activity. Enolase and lactat …
The pneumococcal culture supernatant contained mycelial fragmentation activity that was heat-sensitive. The culture supernatant of a mutant …
Dietary effects of copper and iron deficiency on rat intestine: a differential display proteome analysis.
Tosco A, Siciliano RA, Cacace G, Mazzeo MF, Capone R, Malorni A, Leone A, Marzullo L. Tosco A, et al. J Proteome Res. 2005 Sep-Oct;4(5):1781-8. doi: 10.1021/pr0501012. J Proteome Res. 2005. PMID: 16212433
A differential analysis of the rat intestinal proteome evidenced the following dietary copper- and iron-deficiencies, i.e., significant changes in the levels of proteins belonging to different functional classes (glucose and fatty acid metabolism, molecular chaperones, cyt …
A differential analysis of the rat intestinal proteome evidenced the following dietary copper- and iron-deficiencies, i.e., significa …
Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?
Musumeci O, Brady S, Rodolico C, Ciranni A, Montagnese F, Aguennouz M, Kirk R, Allen E, Godfrey R, Romeo S, Murphy E, Rahman S, Quinlivan R, Toscano A. Musumeci O, et al. J Neurol. 2014 Dec;261(12):2424-8. doi: 10.1007/s00415-014-7512-7. Epub 2014 Sep 30. J Neurol. 2014. PMID: 25267339
Muscle beta-enolase deficiency is a very rare inherited metabolic myopathy caused by an enzymatic defect of distal glycolysis. ...Both mutations segregated as expected in the two families. Although quite rare, muscle beta-enolase deficiency should be c …
Muscle beta-enolase deficiency is a very rare inherited metabolic myopathy caused by an enzymatic defect of distal glycolysis. …
Identification of tear fluid biomarkers in dry eye syndrome using iTRAQ quantitative proteomics.
Zhou L, Beuerman RW, Chan CM, Zhao SZ, Li XR, Yang H, Tong L, Liu S, Stern ME, Tan D. Zhou L, et al. J Proteome Res. 2009 Nov;8(11):4889-905. doi: 10.1021/pr900686s. J Proteome Res. 2009. PMID: 19705875
With the use of a 4-protein biomarker panel, the diagnostic accuracy for dry eye was 96% (sensitivity, 91.0%; specificity, 90.0%). Two biomarker candidates (alpha-enolase and S100 A4) generated from iTRAQ experiments were successfully verified using an ELISA assay. The lev …
With the use of a 4-protein biomarker panel, the diagnostic accuracy for dry eye was 96% (sensitivity, 91.0%; specificity, 90.0%). Two bioma …
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N. Comi GP, et al. Ann Neurol. 2001 Aug;50(2):202-7. doi: 10.1002/ana.1095. Ann Neurol. 2001. PMID: 11506403
A severe muscle enolase deficiency, with 5% of residual activity, was detected in a 47-year-old man affected with exercise intolerance and myalgias. ...Our data suggest that ENO3 mutations result in decreased stability of mutant beta-enolase. Muscle beta-e …
A severe muscle enolase deficiency, with 5% of residual activity, was detected in a 47-year-old man affected with exercise int …
16 results