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Biomarkers
Panels
Conditions
Reference
LOINC categories
/
Inborn errors metabolism lysosomal
LP31406-9
Inborn errors metabolism lysosomal
LOINC part
LP31406-9
Within
Chemistry - non-challenge
27 categories within it
63 biomarkers in all
LOINC category
Part
Biomarkers
Beta-N-acetylhexosaminidase
LP14022-5
6
Argininosuccinate
LP15417-6
4
Biotinidase
LP15452-3
4
Glucosidase
LP14748-5
4
Cerebroside sulfatase
LP14023-3
3
Galactosylceramidase
LP14027-4
3
Globotriaosylsphingosine
LP268082-7
3
Glucopsychosine
LP310332-4
3
Acid sphingomyelinase
LP14035-7
2
Alpha galactosidase A
LP14012-6
2
Alpha-L-iduronidase
LP14016-7
2
Glucosylceramidase
LP15604-9
2
Lysosomal acid lipase
LP189526-9
2
N-Acetylgalactosamine-4-Sulfatase
LP14031-6
2
N-Nervonoylsphingosine
LP412215-8
2
N-Palmitoylsphingosine
LP412214-1
2
N-Stearoylsphingosine
LP412213-3
2
Phenylpyruvate
LP15794-8
2
Succinylacetone
LP15872-2
2
Alpha-N-acetylglucosaminidase
LP21324-6
1
Amino acidemia disorder suspected
LP97725-3
1
Branched chain keto-acid dehydrogenase complex
LP30840-0
1
Fabry disease
LP113911-4
1
Gaucher disease
LP113916-3
1
Lysosomal enzymes
LP32886-1
1
N-Acetylgalactosamine-6-Sulfatase
LP14032-4
1
N-Acetylglucosamine-6-Sulfatase
LP14033-2
1