Počet záznamov: 1
Alstromov syndróm
SYS d056769 LBL 00000nx--j2200000---45-- 005 20240119200626.5 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $a Alstromov syndróm $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 2010 $8 eng 330 1-
$a Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene. $8 eng 450 $a Alstrom's Syndrome $5 e $8 eng 686 $a C10.500.300.099 686 $a C10.574.500.495.099 686 $a C10.668.829.800.300.099 686 $a C11.270.684.249 686 $a C16.131.077.245.063 686 $a C16.131.666.300.099 686 $a C16.320.184.063 686 $a C16.320.290.684.249 686 $a C16.320.400.375.099 750 $a Alstrom Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -0
$a SK $b BA006 $c 20100331 980 $x M
Počet záznamov: 1