phosphorylethanolamine has been researched along with Chondrodysplasia Punctata, Rhizomelic in 1 studies
phosphorylethanolamine: RN given refers to parent cpd; structure
O-phosphoethanolamine : The ethanolamine mono-ester of phosphoric acid, and a metabolite of phospholipid metabolism. This phosphomonoester shows strong structural similarity to the inhibitory neurotransmitter GABA, and is decreased in post-mortem Alzheimer's disease brain.
Chondrodysplasia Punctata, Rhizomelic: An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (100.00) | 2.80 |
| Authors | Studies |
|---|---|
| De Biase, I | 1 |
| Yuzyuk, T | 1 |
| Cui, W | 1 |
| Zuromski, LM | 1 |
| Moser, AB | 1 |
| Braverman, NE | 1 |
1 other study available for phosphorylethanolamine and Chondrodysplasia Punctata, Rhizomelic
| Article | Year |
|---|---|
Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders.
Topics: Animals; Chondrodysplasia Punctata, Rhizomelic; Chromatography, Liquid; Erythrocytes; Mice; Plasmalo | 2023 |