DISORDER
|
ENZYME OR TEST
|
Cystinosis* | 35S-cystine incorporation |
Salla disease and Infantile acetylneuraminic acid storage disease and Sialuria | N-acetylneuraminic acid |
(* = prenatal diagnosis available)
DISORDER
|
ENZYME OR TEST
|
Cystinosis* | 35S-cystine incorporation |
Salla disease and Infantile acetylneuraminic acid storage disease and Sialuria | N-acetylneuraminic acid |
(* = prenatal diagnosis available)