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

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