TY  - GEN
AU  - Brookhyser,K M
AU  - Lipson,M H
AU  - Moser,A B
AU  - Moser,H W
AU  - Lachman,R S
AU  - Rimoin,D L
TI  - Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency
SN  - 0197-3851
PY  - 1999///0625
KW  - Adult
KW  - Alkyl and Aryl Transferases
KW  - deficiency
KW  - Amniocentesis
KW  - Cartilage
KW  - pathology
KW  - Chondrodysplasia Punctata, Rhizomelic
KW  - diagnosis
KW  - Female
KW  - Fibroblasts
KW  - ultrastructure
KW  - Gestational Age
KW  - Humans
KW  - Karyotyping
KW  - Male
KW  - Microbodies
KW  - metabolism
KW  - Plasmalogens
KW  - biosynthesis
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - methods
KW  - Ultrasonography, Prenatal
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/(sici)1097-0223(199904)19:4<383::aid-pd544>3.0.co;2-s
ER  -