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

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