Page last updated: 2024-10-28

batyl alcohol and Chondrodysplasia Punctata, Rhizomelic

batyl alcohol has been researched along with Chondrodysplasia Punctata, Rhizomelic in 2 studies

batyl alcohol: RN given refers to cpd without isomeric designation
batilol : An alkylglycerol that is glycerol in which one of the primary hydroxy groups has been converted into the corresponding octadecyl ether. It is used in cosmetics as a stabilising ingredient and skin-conditioning agent.

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)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's1 (50.00)2.80

Authors

AuthorsStudies
Todt, H1
Dorninger, F1
Rothauer, PJ1
Fischer, CM1
Schranz, M1
Bruegger, B1
Lüchtenborg, C1
Ebner, J1
Hilber, K1
Koenig, X1
Erdem, FA1
Gawali, VS1
Berger, J1
Braverman, N1
Zhang, R1
Chen, L1
Nimmo, G1
Scheper, S1
Tran, T1
Chaudhury, R1
Moser, A1
Steinberg, S1

Other Studies

2 other studies available for batyl alcohol and Chondrodysplasia Punctata, Rhizomelic

ArticleYear
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:5

    Topics: Administration, Oral; Animals; Arrhythmias, Cardiac; Chondrodysplasia Punctata, Rhizomelic; Dietary

2020
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
    Molecular genetics and metabolism, 2010, Volume: 99, Issue:4

    Topics: Animals; Bone and Bones; Cells, Cultured; Chondrodysplasia Punctata, Rhizomelic; Dietary Supplements

2010