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UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
P P- P0 P1 P2 P3 P4 P5 P6 P7 P8 P9 PA PB PC PD PE PF PG PH PI PK PL PM PN PO PP PQ PR PS PT PU PV PW PX PY
PYE PYL PYO PYR

pyruvate kinase deficiency

[autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity. ( CSP )]
UMLS (CSP) C0340968
 
Disease or Syndrome
Relation/PAR: ANEMIA HEMOLITIKOA
Congenital Metabolic Disorder
enzyme deficiency
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