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Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management.
Weinstein R. Weinstein R. J Clin Apher. 1999;14(4):181-4. doi: 10.1002/(sici)1098-1101(1999)14:4<181::aid-jca5>3.0.co;2-z. J Clin Apher. 1999. PMID: 10611628 Review.
Phytanic acid storage disease (known also as Refsum's Disease) is caused by inherited defects in the metabolic pathway for phytanic acid, a dietary branched-chain fatty acid. ...
Phytanic acid storage disease (known also as Refsum's Disease) is caused by inherited defects in the metabolic p …
Ophthalmic manifestations of infantile phytanic acid storage disease.
Weleber RG, Tongue AC, Kennaway NG, Budden SS, Buist NR. Weleber RG, et al. Arch Ophthalmol. 1984 Sep;102(9):1317-21. doi: 10.1001/archopht.1984.01040031067026. Arch Ophthalmol. 1984. PMID: 6206835
Two patients had infantile phytanic acid storage disease. Patient 1 had nystagmus from early infancy, epicanthal folds, esotropia, and a pigmentary retinopathy. ...
Two patients had infantile phytanic acid storage disease. Patient 1 had nystagmus from early infancy, epicanthal …
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.
Scotto JM, Hadchouel M, Odievre M, Laudat MH, Saudubray JM, Dulac O, Beucler I, Beaune P. Scotto JM, et al. J Inherit Metab Dis. 1982;5(2):83-90. doi: 10.1007/BF01799998. J Inherit Metab Dis. 1982. PMID: 6188882
Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. ...However, other characteristics such as mental retardation, hepatomegaly, osteopenia, hypocholesterolaemia and hypoalphalipoproteinaemia, as well …
Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. ...Howe …
Di-, mono- and nonphytanyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Refsum's disease.
Molzer B, Bernheimer H, Barolin GS, Höfinger E, Lenz H. Molzer B, et al. Clin Chim Acta. 1979 Jan 15;91(2):133-40. doi: 10.1016/0009-8981(79)90447-9. Clin Chim Acta. 1979. PMID: 83207
The relative proportions of the diphytanyl, monophytanyl and nonphytanyl triglycerides ("triglyceride pattern"), the phytanic acid content of the triglycerides and the phytanic acid levels in the serum of 3 patients with Refsum's disease (heredopathia atactica polyneuritiformis, …
The relative proportions of the diphytanyl, monophytanyl and nonphytanyl triglycerides ("triglyceride pattern"), the phytanic acid content o …
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
Budden SS, Kennaway NG, Buist NR, Poulos A, Weleber RG. Budden SS, et al. J Pediatr. 1986 Jan;108(1):33-9. doi: 10.1016/s0022-3476(86)80765-x. J Pediatr. 1986. PMID: 2418187
This characteristic syndrome has been described in several children and called infantile Refsum disease or phytanic acid storage disease. Its relationship to neonatal adrenoleukodystrophy, hyperpipecolic acidemia, and Zellweger syndrome is discussed... …
This characteristic syndrome has been described in several children and called infantile Refsum disease or phytanic acid st …
Phytanic acid oxidase deficiency in childhood.
Wise GA, Duffy BJ, Mitchell JD, Pollard AC, Poulos A, Pollard J. Wise GA, et al. Clin Exp Neurol. 1985;21:289-99. Clin Exp Neurol. 1985. PMID: 3843227
Cases 1 and 2 resemble clinically the previous cases of children reported as suffering from infantile phytanic acid storage disease, Zellweger's disease, or neonatal adrenoleucodystrophy. ...
Cases 1 and 2 resemble clinically the previous cases of children reported as suffering from infantile phytanic acid storage …
Infantile Refsum's disease: a peroxisomal storage disorder?
Manson JI, Pollard AC, Poulos A, Carter RF. Manson JI, et al. Clin Exp Neurol. 1985;21:283-7. Clin Exp Neurol. 1985. PMID: 2436838
Histopathological findings in a liver biopsy were similar to those reported in infantile phytanic acid storage disease. Unexpected findings were the presence of elevated levels of plasma pipecolic acid, and elevated plasma long-chain fatty acid ratios, …
Histopathological findings in a liver biopsy were similar to those reported in infantile phytanic acid storage disea …