Page last updated: 2024-10-18

glycerol and Homocystinuria

glycerol has been researched along with Homocystinuria in 1 studies

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Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kopecká, J1
Krijt, J1
Raková, K1
Kožich, V1

Other Studies

1 other study available for glycerol and Homocystinuria

ArticleYear
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:1

    Topics: Alleles; Aminolevulinic Acid; Betaine; Cystathionine beta-Synthase; Escherichia coli; Glycerol; Homo

2011