2-hexadecanoylamino-4-nitrophenylphosphorylcholine has been researched along with Niemann-Pick Diseases in 4 studies
*Niemann-Pick Diseases: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. [MeSH]
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (75.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (25.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Backes, J; Bauer, P; Bruchelt, G; Harzer, K; Krägeloh-Mann, I; Kustermann-Kuhn, B; Mayrhofer, H; Mengel, E; Rolfs, A; van Diggelen, OP; Zschiesche, M | 1 |
| Barranger, JA; Brady, RO; Gal, AE; Pentchev, PG | 1 |
| Den Tandt, WR; Eggermont, E; Jaeken, J; Leroy, JG | 1 |
| Brady, RO; Gal, AE; Hibbert, SR; Pentchev, PG | 1 |
4 other study(ies) available for 2-hexadecanoylamino-4-nitrophenylphosphorylcholine and Niemann-Pick Diseases
| Article | Year |
|---|---|
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Clinical Enzyme Tests; Diagnostic Errors; Humans; Infant; Middle Aged; Mutation; Niemann-Pick Diseases; Phosphorylcholine; Sphingomyelin Phosphodiesterase; Sphingomyelins | 2003 |
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.
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 |