The optimal conditions for isolation of naphazoline from naphthyzin preparations and biological fluids with chloroform at pH 9.18 are described. The compound of interest was identified with the use of color and precipitation reactions, IR and UV spectroscopy, thin-layer and gas chromatography, and chemical methods including high performance liquid chromatography, chromatodensitometry, and UV spectroscopy. The results obtained by the three methods are comparable.
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Heterozygous mutations affecting the protein kinase domain of cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
January 2018
Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Introduction: Recent evidence has emerged linking mutations in to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with mutations.
Methods: Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause.
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