Number of the records: 1
tyrozinémie
SYS d020176 LBL 00000cx--j22000003--45-- 005 20240119201227.5 100 $a 19991104csloy0103----ba0 152 $b mesh 250 $a tyrozinémie $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 2000 $8 eng 300 1-
$a Amino Acid Metabolism, Inborn Errors (1967-1999) $8 eng 330 1-
$a A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) $8 eng 450 $a 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease $5 e $8 eng 450 $a Fumarylacetoacetase Deficiency Disease $5 e $8 eng 450 $a Tyrosine Transaminase Deficiency Disease $5 e $8 eng 450 $a choroba z deficitu fumarylacetoacetázy $5 e $8 slo 450 $a choroba z deficitu tyrozíntransaminázy $5 e $8 slo 450 $a choroba z deficitu 4-hydroxyfenylpyruvátdioxygenázy $5 e $8 slo 550 $3 sllk_un_auth*d014444 $Y Tyrosine Transaminase $5 B $a tyrozíntransamináza 686 $a C10.228.140.163.100.875 686 $a C16.320.565.100.880 686 $a C16.320.565.189.875 686 $a C18.452.132.100.875 686 $a C18.452.648.100.880 686 $a C18.452.648.189.875 750 $a Tyrosinemias $8 eng 801 -0
$a US $b DNLM $c 19991104 801 -2
$a SK $b BA006 $c 20040322 820 $a note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic $8 eng 980 $x M
Number of the records: 1