Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. [electronic resource]
Producer: 19990625Description: 383-5 p. digitalISSN:- 0197-3851
- Adult
- Alkyl and Aryl Transferases -- deficiency
- Amniocentesis
- Cartilage -- pathology
- Chondrodysplasia Punctata, Rhizomelic -- diagnosis
- Female
- Fibroblasts -- ultrastructure
- Gestational Age
- Humans
- Karyotyping
- Male
- Microbodies -- metabolism
- Plasmalogens -- biosynthesis
- Pregnancy
- Prenatal Diagnosis -- methods
- Ultrasonography, Prenatal
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Publication Type: Case Reports; Journal Article
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