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Refsumova choroba
SYS d012035 LBL 00000cy--a2200000o--4500 005 20250606214646.7 008 990101|-|anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.813 065 $a C10.500.300.780 065 $a C10.574.500.495.780 065 $a C10.668.829.800.300.780 065 $a C16.131.666.300.780 065 $a C16.320.400.375.780 065 $a C16.320.565.189.813 065 $a C16.320.565.663.760 065 $a C18.452.132.100.813 065 $a C18.452.648.189.813 065 $a C18.452.648.663.760 066 $a 01 $c 03 150 $a Refsumova choroba $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Heredopathia Atactica Polyneuritiformis $2 eng 450 $w v $a HMSN Type IV $2 eng 450 $w v $a Neuropathy, Hereditary Motor and Sensory, Type IV $2 eng 450 $w v $a Phytanic Acid Storage Disease $2 eng 450 $w v $a HMSN, typ IV $2 slo 450 $w v $a heredopathia atactica polyneuritiformis $2 slo 450 $w v $a neuropatia dedičná motorická a senzorická, typ IV $2 slo 450 $w v $a choroba z ukladania kyseliny fytánovej $2 slo 665 $a 1996 (1964) $2 eng 680 9-
$i An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES. $2 eng 680 $a do not confuse with REFSUM DISEASE, INFANTILE $2 eng 750 $a Refsum Disease $2 eng 980 $x M
Number of the records: 1