Metabolic Flashcards
1
Q
Gaucher
A
Glucocerebrosidase
2
Q
Pompe
A
Acid Maltase
3
Q
McArdle
A
Myophosphorylase
4
Q
Tarui
A
Phosphofruktokinase
5
Q
Cori Forbes
A
Amylo 1,6 Glucosidase
6
Q
Anderssen
A
K-Channel
7
Q
Carnitine Deficiency
A
Carnitine
8
Q
Carnitine Palmoyoyl transferease deficiencey
A
CPT deficiency
9
Q
GM2 Gangliosidosis
A
Hexosaminidase (TaySachs Sandhoff)
10
Q
Fabry
A
Alpha Galaktosidase
11
Q
Niemann Pick
A
Sphingomyeline
12
Q
Alexander
A
GFAP
13
Q
MLD
A
Arylsulfatase A
14
Q
Krabbe
A
Galactocerebrosidase
15
Q
Hurler
A
alpha-L iduronidase deficeiency; mucopolysacharidosis type I
