Počet záznamov: 1
hypofosfatázia
SYS d007014 LBL 00000nx--j22000003--45-- 005 20240119200830.3 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a hypofosfatázia $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 72(66) $8 eng 330 1-
$a A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) $8 eng 550 $3 sllk_un_auth*d000469 $Y Alkaline Phosphatase $5 B $a fosfatáza alkalická 686 $a C16.320.565.618.482 686 $a C18.452.648.618.482 750 $a Hypophosphatasia $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070706 820 $a defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES $8 eng 980 $x M
Počet záznamov: 1