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Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.
Wanders RJ, Boltshauser E, Steinmann B, Spycher MA, Schutgens RB, van den Bosch H, Tager JM. Wanders RJ, et al. J Neurol Sci. 1990 Aug;98(1):1-11. doi: 10.1016/0022-510x(90)90177-o. J Neurol Sci. 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 …
The infantile and classic forms of phytanic acid storage disease belong to the newly recognized group of peroxis …
Non-acid glycosphingolipid expression in plasma of an A1 Le(a-b+) secretor human individual: identification of an ALeb heptaglycosylceramide as major blood group component.
Lindström K, Breimer ME, Jovall PA, Lanne B, Pimlott W, Samuelsson BE. Lindström K, et al. J Biochem. 1992 Mar;111(3):337-45. doi: 10.1093/oxfordjournals.jbchem.a123759. J Biochem. 1992. PMID: 1587795 Free article.
Total non-acid glycosphingolipids were isolated from plasma of an A1 Le(a-b+) secretor individual with Refsum's disease (phytanic acid storage disease). The glycolipids were separated into 11 fractions by open column chromatography and by HPLC. ...
Total non-acid glycosphingolipids were isolated from plasma of an A1 Le(a-b+) secretor individual with Refsum's disease (phytanic …