creatine has been researched along with Chondrodysplasia Punctata, Rhizomelic in 1 studies
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 creatine 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 |