Počet záznamov: 1
Hartnupova choroba
SYS d006250 LBL 00000nx--j22000003--45-- 005 20240119201028.6 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a Hartnupova 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 $8 slo 300 1-
$a 1965 $8 eng 330 1-
$a An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19. $8 eng 450 $a Amino Acid Transport Disorder, Neutral $5 e $8 eng 450 $a Neutral Amino Acid Transport Disorder $5 e $8 eng 450 $a Transport Disorder, Neutral Amino Acid $5 e $8 eng 450 $a porucha transportu neutrálnych aminokyselín $5 e $8 slo 450 $a Hartnupových choroba $5 e $8 slo 450 $a Hartnupov syndróm $5 e $8 slo 550 $3 sllk_un_auth*d007200 $Y Indican $5 B $a indikán 686 $a C10.228.140.163.100.355 686 $a C12.050.351.968.419.815.885.625 686 $a C12.200.777.419.815.885.457 686 $a C12.950.419.815.885.625 686 $a C16.320.565.151.355 686 $a C16.320.565.189.355 686 $a C16.320.831.885.457 686 $a C18.452.132.100.355 686 $a C18.452.648.151.355 686 $a C18.452.648.189.355 750 $a Hartnup Disease $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010109 980 $x M
Počet záznamov: 1