High(er) Yield Genetic Errors by Protein Or Enzyme

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Can you name the High(er) Yield Genetic Errors by Protein Or Enzyme

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Enzyme/Protein deficiencyAnswerBuild-up product, specific findings
Glucocerebrosidase
Cystathionine snythase
Beta-galactocerebrosidase
Ornithine transcarbamoylase
C1 esterase inhibitor
HMB synthase
Iduronate sulfatase
Tyrosinase
Galactose-1-phosphate uridyltransferase
Aldolase B
Phenylalanine hydroxylase
Uroporphyrinogen decarboxylase
Alpha-galactosidase A
Enzyme/Protein deficiencyAnswerBuild-up product, specific findings
Sphingomyelinase
Alpha-1,4-Glucosidase
HGPRT
Hexosaminidase
Glucose-6-phosphatase
Alpha-1-iduronidase
Arylsulfatase A
Dihydropterin reductase
Alpha-1,6-glucosidase (debranching enzyme)
Adenosine deaminase
Branched chain a-ketoacid dehydrogenase
Muscle glycogen phosphorylase
Homogentisase oxidase

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