Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

Poulos, A

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? [electronic resource] - Clinical genetics Dec 1984 - 579-86 p. digital

Publication Type: Case Reports; Journal Article

0009-9163

10.1111/j.1399-0004.1984.tb01107.x doi


Abnormalities, Multiple--genetics
Cells, Cultured
Eicosanoic Acids--metabolism
Fibroblasts--metabolism
Genetic Variation
Humans
Infant
Phytanic Acid--metabolism
Refsum Disease--genetics
Skin--metabolism
Syndrome