Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

Sjogren-Larsson syndrome

B. W. Richards · Journal of the American Academy of Dermatology · 2005 · 245 citations · Full text

Medicine, Genetics, Pediatrics +11

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

Gerald Höefler, Sigrid Hoefler, Paul A. Watkins et al. · The Journal of Pediatrics · 1988 · 134 citations

Medicine, Pathobiology, Pathology +13

HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE) TREATED BY DIET AND PLASMA-EXCHANGE

F B Gibberd, N. G. R. Page, J.D. Billimoria et al. · The Lancet · 1979 · 122 citations

Medicine, Nutrition, Neuropathology +1

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

E. F. Robertson, A. Poulos, P. Sharp et al. · European Journal of Pediatrics · 1988 · 40 citations

Public Health, Child Health, Pediatrics +6

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

Bwee Tien Poll‐The, P Maroteaux, C. Narcy et al. · Journal of Inherited Metabolic Disease · 1991 · 32 citations

Medicine, Pathobiology, Pathology +11