nitrophenols has been researched along with Niemann-Pick-Diseases* in 5 studies
5 other study(ies) available for nitrophenols and Niemann-Pick-Diseases
| Article | Year |
|---|---|
The diagnosis of type A and type B Niemann Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin.
Topics: Choline; Genetic Carrier Screening; Humans; Leukocytes; Niemann-Pick Diseases; Nitrophenols; Phosphorylcholine | 1980 |
A micromethod for sphingomyelinase assay using a chromogenic artificial substrate. Its use in the diagnosis of Niemann-Pick disease.
Topics: Adolescent; Child; Child, Preschool; Choline; Female; Fibroblasts; Humans; Male; Methods; Niemann-Pick Diseases; Nitrophenols; Phosphoric Diester Hydrolases; Phosphorylcholine; Sphingomyelin Phosphodiesterase | 1979 |
A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.
Niemann-Pick disease is caused by a deficiency of sphingomyelinase in organs and tissues. Determinations of sphingomyelinase activity had required the use of sphingomyelin labeled with radiocarbon or radiohydrogen. These materials are expensive, and their use is restricted to laboratories with radioactive counting facilities. An analogue of sphingomyelin, 2-hexadecanoylamino-4-nitrophenylphosphorylcholine, was synthesized. This substance is hydrolyzed by highly purified sphingomyelinase, and by sphingomyelinease in extracts of human liver tissue, cultured skin fibroblasts, cultured amniotic cells and washed leukocyte preparations. Extracts of tissues and cells from patients with Niemann-Pick disease Type A do not hydrolyze this compound, whereas heterozygotes and patients with Niemann-Pick disease Type C have an intermediate level of hydrolytic activity. Thus, the analogue is a reliable chromogenic reagent for the diagnosis of patients with Niemann-Pick disease and the detection of heterozygous carriers of the Niemann-Pick trait. Topics: Amniotic Fluid; Cells, Cultured; Cerebrosides; Choline; Clinical Enzyme Tests; Fibroblasts; Glucosylceramidase; Heterozygote; Homozygote; Humans; Hydrogen-Ion Concentration; Hydrolysis; Leukocytes; Liver; Niemann-Pick Diseases; Nitrophenols; Phosphoric Diester Hydrolases; Phosphorylcholine; Proteins; Skin; Sphingomyelin Phosphodiesterase; Sphingomyelins | 1975 |
Phosphodiesterases in human tissues. II. Decreased hydrolysis of synthetic substrate by tissues from patients with the Niemann-Pick syndrome.
Topics: Acid Phosphatase; Brain; Chromatography, Thin Layer; Galactosidases; Glycoside Hydrolases; Humans; Hydrogen-Ion Concentration; Liver; Magnesium; Niemann-Pick Diseases; Nitrophenols; Phosphoric Diester Hydrolases; Phosphorus Radioisotopes; Sphingomyelins; Structure-Activity Relationship; Tritium | 1974 |
Generalized gangliosidosis: beta-galactosidase deficiency.
A profound deficiency (10- to 30-fold) of beta-galactosidase activity was found in tissues (liver, spleen, kidney, and brain) from two patients with generalized gangliosidosis; this deficiency is demonstrated as a failure to cleave both p-nitrophenyl-beta-D-galactopyranoside and ganglioside GM(1) labeled with C(14) in the terminal galactose. We believe that this enzymic defect is responsible for the accumulation of ganglioside GM(1) and is the fundamental enzyme defect in generalized gangliosidosis. Topics: Acid Phosphatase; Aged; Brain; Carbon Isotopes; Child; Child, Preschool; Chromatography, Paper; Galactose; Galactosidases; Gangliosides; Glucosidases; Glycosides; Humans; Infant; Kidney; Lipid Metabolism, Inborn Errors; Lipidoses; Liver; Male; Middle Aged; Molecular Biology; Niemann-Pick Diseases; Nitrophenols; Spleen; Uracil Nucleotides | 1968 |