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22 Cards in this Set
- Front
- Back
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Glycolysis RLE?
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phosphofructokinase-1 (PFK-1), (RLE)
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Gluconeogenesis RLE?
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fructose bisphosphatase-2 (RLE)
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TCA cycle RLE?
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Isocitrate dehydrogenase (RLE)
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Glycogen synthesis RLE?
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glycogen synthase (RLE)
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Glycogenolysis RLE?
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glycogen phosphorylase (RLE)
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HMP shunt RLE?
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G6PD (RLE)
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Denovo pyrimidine synth RLE?
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Aspartate transcarbamoylase (ATCase) (RLE)
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Denovo purine synth RLE?
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Glutamine-PRPP amidotransferase (RLE)
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Urea cycle RLE?
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Carbamoyl phosphate synthetase (RLE)
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Fatty acid synthesis RLE?
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AcetylCoA carboxylase
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Fatty acid oxidation RLE?
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Carnitine acyltransferase I (RLE)
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Ketogenesis RLE?
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HMG-CoA synthase (RLE)
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Cholesterol synthesis RLE?
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HMG-CoA redutase (RLE)
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Glycogen storage diseases
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Von Gierke's - glucose 6 phosphatase
Pompe's - lys a-1,4, glucosidase Cori's - debranching a-1,6,glucosidase McArdle's - sk mscl glycogen phosphorylase |
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Fabry's dz (Lys Stor Dz)
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Only lys stor dz that is XR! (et al AR)
Enz - a-galactosidase A Sub - ceramide trihexoside |
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Gaucher's dz (Lys Stor Dz)
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Enz - b-glucocerebrosidase
Sub - glucocerebroside |
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Niemann-Pick dz (Lys Stor Dz)
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Enz - sphingomyelinase
Sub - sphingomyelin |
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Tay-Sachs dz (Lys Stor Dz)
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Enz - Hexosaminidase A
Sub - GM2 ganglioside |
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Krabbe's dz (Lys Stor Dz)
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Enz - galactocerebrosidase
Sub - galactocerebroside |
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Metachromatic leukodystrophy (Lys Stor Dz)
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Enz - arylsulfatase A
Sub - cerebroside sulfate |
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Hurler's synd (mucopolysaccharidoses)
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Hurler's - AR
Enz - a-L-iduronidase Sub - heparan & dermatan sulfate |
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Hunter's synd (mucopolysaccharidoses)
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Hunter's - XR
Enz - iduronate sulfatase Sub - hheparan & dermatan sulfate |
