Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis
- 1 May 1992
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (3) , 377-380
- https://doi.org/10.1007/bf02435981
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- A new type of chondrodysplasia punctata associated with peroxisomal dysfunctionJournal of Inherited Metabolic Disease, 1991
- Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiencyJournal of Inherited Metabolic Disease, 1991
- Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a reviewJournal of Inherited Metabolic Disease, 1991
- Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunctionThe Journal of Pediatrics, 1990
- Peroxisomal disorders in neurologyJournal of the Neurological Sciences, 1988
- Biochemical abnormalities in rhizomelic chondrodysplasia punctataThe Journal of Pediatrics, 1988
- Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 yearsEuropean Journal of Pediatrics, 1988
- HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE) TREATED BY DIET AND PLASMA-EXCHANGEThe Lancet, 1979