Assays / Genetic Enzymes

A|C|D|F|G|H|I|K|L|M|N|O|P|R|S|T|U|V|W|X|

A
a-N-Acetylgalactosaminidase
N-Acetylgalactosamine 6-Sulphatase
a-N-Acetylglucosaminadase
N-Acetylneuraminic Acid
a-N-Acetylneuraminidase
Acid Esterase
Acid Lipase
Adrenomyeloneuropathy
Amino Acid And Organic Acid Disorders
Argininosuccinic Aciduria
Arylsulphatase A
Arylsulphatase B
Arylsulphatase C
Aspartylglucosaminidase
Aspartylglycosaminuria

C
Carbamoyl Phosphate Synthetase
Carbamoyl Phosphate Synthetase Deficiency
Catalase Latency
Ceramidase
Chitotriosidase
Cholesterol Ester Storage Disease
Cholesterol Esterification
Cholesterol Storage
Citrullinaemia
[¹⁴c]-Citrulline Incorporation
[³⁵S]-Cystine Incorporation
Cystinosis

D
Dihydroxyacetone Phosphate Acyl Transferase (DHAP-AT)
Disorders of Branched-Chain Amino Acid Metabolism
Disorders Of Galactose Metabolism
Disorders of Organic Acid Metabolism
Disorders of Sulphur Amino Acid Metabolism

F
Fabry Disease
Farber Disease
a-Fucosidase
Fucosidosis

G
Galactocerebrosidase
Galactokinase
Galactokinase Deficiency Galactosaemia
Galactosaemia (Classical)
Galactose 1-Phosphate Uridyl Transferase
a-Galactosidase A
b-Galactosidase
a -Galactosidase B
Galactose 6-Sulphatase
Galactosialidosis
Gaucher Disease
Generalised Peroxisomal Disorders
a-Glucosidase
b-Glucosidase
b-Glucuronidase
Glucosamine N-Acetyltransferase
Glycogen Storage Disease Type II
Glycosaminoglycans
Glycogen Storage Disease
GM₁-Gangliosidosis

H
Heparan Sulphamidase
b-Hexosaminidase
Hunter Disease
Hurler Disease

I
I-Cell Disease
a-Idurodinase
Iduronate Sulphatase
Infantile N-Acetylneuraminic Acid Storage Disease

K
a-Ketoacid Decarboxylase
Krabbe Disease

L
Lysosomal Storage Disorders
Lysosomal Disorders (Other)
Lysosomal Enzyme Processing Defects
Lysosomal Enzyme Screening

M
Maple Syrup Urine Disease
a-Mannosidase
a-Mannosidosis
b-Mannosidase
b-Mannosidosis
Maroteaux-Lamy Disease
3-Methylcrotonylglycinuria
3-Methylcrotonyl-CoA Carboxylase
Metachromatic Leucodystrophy
Miscellaneous DisordersMucolipidoses
Morquio Disease
Mucopolysaccharidoses (MPS)
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis III
Mucopolysaccharidosis Type IV
Mucopolysaccharidosis Type VI
Mucopolysaccharidosis Type VII
Mucosulphatidosis
Multiple Carboxylase Deficiency
Multiple Sulphatase Deficiency

N
Niemann-Pick Disease Types A and B
Niemann-Pick Disease Type C

O
Oligosaccharides
Ornithine Transcarbamylase
Ornithine Transcarbamylase Deficiency

P
Peroxisomal Disorders
Plasmalogen Biosynthesis
Pompe Disease
Pyruvate Carboxylase Deficiency
Propionic Acidaemia
Propionyl-CoA Carboxylase
Pseudo-Hurler Polydystrophy
Pyruvate Carboxylase Deficiency

R
Rhizomelic Chondrodysplasia Punctata

S
Salla Disease
Sandhoff Disease
Sanfilippo Disease
Schindler Disease
Scheie Disease
Sialic Acid
Sialidosis
Sialuria
Sly Disease
Sphingolipidoses
Sphingomyelinase

T
Tay-Sachs Disease
Transport Defects

U
Urea Cycle Defects

V
Very Long Chain Fatty Acids

W
Wolman Disease

X
X-Linked Adrenoleucodystrophy