pipecolic acid has been researched along with Chondrodysplasia Punctata, Rhizomelic in 1 studies
pipecolic acid: RN given refers to cpd without isomeric designation
pipecolic acid : A piperidinemonocarboxylic acid in which the carboxy group is located at position C-2.
pipecolate : A piperidinecarboxylate that is the conjugate base of pipecolic 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 |
|---|---|---|
| "PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP)." | 2.43 | Peroxisome biogenesis disorders. ( Braverman, NE; Dodt, G; Moser, AB; Moser, HW; Raymond, GV; Steinberg, SJ, 2006) |
| 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 |
|---|---|
| Steinberg, SJ | 1 |
| Dodt, G | 1 |
| Raymond, GV | 1 |
| Braverman, NE | 1 |
| Moser, AB | 1 |
| Moser, HW | 1 |
1 review available for pipecolic acid and Chondrodysplasia Punctata, Rhizomelic
| Article | Year |
|---|---|
Peroxisome biogenesis disorders.
Topics: Amino Acid Sequence; Chondrodysplasia Punctata, Rhizomelic; Humans; Membrane Proteins; Molecular Seq | 2006 |