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43 Cards in this Set
- Front
- Back
Most well known of aminoacidurias |
K |
|
If phenylketonuria undetected |
J |
|
Urine finding of phenylketonuria |
J |
|
Lab test for phenylketonuria |
J |
|
Positive for guthrie |
U |
|
Inhibitor of b subtilis |
J |
|
Unsa e measure ni automated techniques |
H |
|
Urine screening test sa phenylketonuria |
J |
|
Excess tyrosine in plasma of urinary flow |
J |
|
2 cause if tyrosyluria |
Y |
|
Problem in tyrosenemia I |
J |
|
Problem in tyrosenemia II |
J |
|
Richner hanhart syndrome |
H |
|
Urinry finding ni tyrosyluria |
Jh |
|
Urine screening sa tyroyluria |
J |
|
One of the original inborn error of metabolism described by Garrod |
K |
|
Urine finding of alkaptonuria |
K |
|
Unsa ang enzyme nga lacking sa alkaptonuria |
J |
|
Urine screening test sa alkaptonuria |
J |
|
Darkening of urine after exposure to air |
J |
|
Urine screening test for melanuria |
N |
|
A.a involve ni mSUD |
J |
|
Block metabolism of leucine,isoleucine valine |
H |
|
Urine screening test ni MSUD |
J |
|
Confirmatory ni msud |
H |
|
Another screening test ni msud |
G |
|
Immediate precursor of malonic acid |
F |
|
Screening test ni methyl malonic acidemia |
J |
|
Tryptophan disorder |
J |
|
Tryptophan disorder |
J |
|
Increase amount of tryptophan are converted to |
G |
|
Urine finding of indicanuria |
J |
|
Tested w feces or bile |
K |
|
Urine screening test for porphyrin |
J |
|
Accumulation of lysosome in connective tissue due to breakdown of polysaccharide |
K |
|
Frequently found in urine |
K |
|
Mucupolysaccharide deposit in cornea |
J |
|
Mental retardation only |
J |
|
Disorder of purine metabolism |
H |
|
Lesh nyhan disease has massive excretion of what npn |
K |
|
Lesh nyhan is lack of what enzyme |
K |
|
Orange sand diapers |
N |
|
Major defect on renaltubular reabsorption mechanism |
K |