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Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.
R J RJ Wanders, E E Boltshauser, B B Steinmann, M A MA Spycher, R B RB Schutgens, H H van den Bosch and J M JM Tager
J Neurol Sci 98(1):1-11 (1990)
PMID 1700075
The infantile and classic forms of phytanic acid storage disease belong to the newly recognized group of peroxisomal disorders. In this paper we report the full clinical, morphological and biochemical results in a patient with infantile phytanic acid storage disease. The results indicate a generalized loss of peroxisomal functions due to a deficiency of peroxisomes as demonstrated in hepatocytes and cultured skin fibroblasts.
DOI:
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DOI:
Version: za2963e q8za8 q8zb3 q8zc0 q8zd4 q8zeb q8zfe q8zgb