类别 全部

作者:R G 15 年以前

694

Lysosomal Storage Diseases

Lysosomal Storage Diseases

Lysosomal Storage Diseases

Demyelination

Metachromatic leukodystrophy

Peripheral neuropathy

Optic atrophy; Globoid cells
Krabbe's Disease
PN of hands/feet; Renal Failure; XLR
Fabry's

Ashkenazi Jews

Cherry Red Spot on Macula

Progressive neurodegeneration

No Hepatosplen

Tay-Sachs

Lysosomes + Onion Skin

Hepatosplen

Niemann-Pick

Foam cells

Most Common/Crumpled Tissue Paper
Gaucher's

Aseptic necrosis of femur

Bone crises

NO CC

Hunter's syndrome

Corneal cloud

Hurler's syndrome