Number of the records: 1
deficit mevalonátkinázy
SYS d054078 LBL 00000cx--j2200000---45-- 005 20240119200555.9 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a deficit mevalonátkinázy $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 $8 slo 300 1-
$a 2008 $8 eng 330 1-
$a Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash. $8 eng 450 $a Hyperimmunoglobulinemia D $5 e $8 eng 450 $a Mevalonicaciduria $5 e $8 eng 450 $a deficit mevalonát kinázy $5 e $8 slo 450 $a hyperimunoglobulinémia D $5 e $8 slo 450 $a nedostatok mevalonátkinázy $5 e $8 slo 450 $a acidúria mevalónová $5 e $8 slo 450 $a syndróm hyper-IgD $5 e $8 slo 450 $a horúčka periodická, holandský typ $5 e $8 slo 450 $a syndróm hyperimunoglobulinémie D a periodickej horúčky $5 e $8 slo 450 $a hyper IgD syndróm periodickej horúčky $5 e $8 slo 686 $a C10.228.140.163.100.593 686 $a C15.378.147.542.319 686 $a C16.320.382.750 686 $a C16.320.565.189.593 686 $a C16.320.565.663.430 686 $a C18.452.132.100.593 686 $a C18.452.648.189.593 686 $a C18.452.648.663.430 686 $a C20.683.460.319 750 $a Mevalonate Kinase Deficiency $8 eng 801 -0
$a SK $b BA006 $c 20080318 801 -2
$a SK $b BA006 $c 20100825 801 -2
$a SK $b BA006 $c 20101215 801 -2
$a SK $b BA006 $c 20120709 801 -2
$a SK $b BA006 $c 20191029 801 -2
$a SK $b BA006 $c 20200820 980 $x M
Number of the records: 1