Page last updated: 2024-10-18

glutaric acid and Achondroplasia

glutaric acid has been researched along with Achondroplasia in 1 studies

glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.

Achondroplasia: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Paciorkowski, AR1
Greenstein, RM1

Reviews

1 review available for glutaric acid and Achondroplasia

ArticleYear
When is enlargement of the subarachnoid spaces not benign? A genetic perspective.
    Pediatric neurology, 2007, Volume: 37, Issue:1

    Topics: Achondroplasia; Child; Craniofacial Abnormalities; Glutarates; Humans; Hydrocephalus; Magnetic Reson

2007