Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.
Smeitink
J A
JA
University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Beemer
F A
FA
Espeel
M
M
Donckerwolcke
R A
RA
Jakobs
C
C
Wanders
R J
RJ
Schutgens
R B
RB
Roels
F
F
Duran
M
M
Dorland
L
L
D002806:Chondrodysplasia Punctata / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism* / Q000628:therapy; D008830:Microbodies / Q000378:metabolism* / Q000473:pathology; D008854:Microscopy, Electron; D010831:Phytanic Acid / Q000097:blood*; D010955:Plasmalogens / Q000096:biosynthesis*; D010956:Plasmapheresis
D010955:Plasmalogens; D010831:Phytanic Acid