aspartic acid has been researched along with Chondrodysplasia Punctata, Rhizomelic in 1 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
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)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Rhizomelic chondrodysplasia punctata is a member of genetic peroxisomal disorders." | 1.32 | Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. ( Alkan, A; Aslan, M; Kutlu, R; Sarac, K; Sigirci, A; Yakinci, C, 2003) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Alkan, A | 1 |
| Kutlu, R | 1 |
| Yakinci, C | 1 |
| Sigirci, A | 1 |
| Aslan, M | 1 |
| Sarac, K | 1 |
1 other study available for aspartic acid and Chondrodysplasia Punctata, Rhizomelic
| Article | Year |
|---|---|
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings.
Topics: Aspartic Acid; Choline; Chondrodysplasia Punctata, Rhizomelic; Creatine; Humans; Infant; Magnetic Re | 2003 |