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Refsumova choroba, infantilný typ
Subject h. Refsumova choroba, infantilný typ Subject h. Refsum Disease, Infantile Entry terms Refsumova choroba, infantilná forma English X references Infantile Refsum Disease Scope note in English An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. 
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