lysosomal storage disease

Laboratory: - lysosomal storage disorder screening (dried blood spot) FDA-approved Feb 2017

Specific

aspartylglucosaminuria ceroid lipofuscinosis cholesterol ester storage disease; lysosomal acid lipase deficiency; Wolman's disease Hermansky-Pudlak syndrome lysosomal alpha-mannosidosis lysosomal beta-mannosidosis mucolipidosis mucopolysaccharidosis (MPS) nephropathic cystinosis sialuria; sialic acid storage disorder; N-acetylneuraminic acid storage disease; Salla disease sphingolipidosis; sphingolipodystrophy; cerebral lipidosis