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Lecture 1 - Genetic Disorders
Deficiencies
7
Pathology
Post-Graduate
10/05/2011
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Term
Alkaptonuria/ochronsis
 Definition
Homogentisic oxidase deficiency
Term
Phenylketonuria
 Definition
phenylalanine oxidase deficiency/Tyrosine deficiency
Term
Tay-Sachs
 Definition
Hexosaminidase A deficiency
Term
Gaucher disease
 Definition
Glucocerebrosidase deficiency
Term
Nieman Pick disease
 Definition
Sphingomyelinase deficiency
Term
Lynch syndrome
 Definition
Iron deficiency anemia
Term
Hurler Syndrome
 Definition
L-iduronidase deficiency
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