Medizinische Universität Graz - Research portal
Selected Publication:
Hoefler, S; Hoefler, G; Moser, AB; Watkins, PA; Chen, WW; Moser, HW.
Prenatal diagnosis of rhizomelic chondrodysplasia punctata.
Prenat Diagn. 1988; 8(8):571-576
Doi: 10.1002/pd.1970080804
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
- Co-authors Med Uni Graz
- Höfler Gerald
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- Plasmalogen biosynthesis and phytanic acid oxidation activity were measured in cultured chorionic villus samples or amniocytes from four pregnancies at risk for the rhizomelic form of chondrodysplasia punctata (RCDP). Normal results were obtained in three of the samples and post-natal examination or fetal ultrasound studies confirmed that the fetuses were unaffected. Chorionic villus culture in one case demonstrated defective plasmalogen biosynthesis and lack of phytanic acid oxidation. Pregnancy was interrupted at 10 weeks. Immunoblot studies of post-mortem fetal tissues showed that peroxisomal 3-oxoacyl-coenzyme A thiolase was present in the unprocessed form, a finding we had previously demonstrated in RCDP. These results establish that RCDP can be identified prenatally.
- Find related publications in this database (using NLM MeSH Indexing)
- Amniocentesis -
- Chondrodysplasia Punctata - diagnosis
- Chorionic Villi - analysis
- Fatty Acids - metabolism
- Female - metabolism
- Fetal Diseases - diagnosis
- Humans - diagnosis
- Oxidation-Reduction - diagnosis
- Phytanic Acid - metabolism
- Plasmalogens - biosynthesis
- Pregnancy - biosynthesis
- Prenatal Diagnosis - biosynthesis
- Research Support, Non-U.S. Gov't - biosynthesis
- Research Support, U.S. Gov't, Non-P.H.S. - biosynthesis
- Research Support, U.S. Gov't, P.H.S. - biosynthesis