Lysosomal Storage Diseases

Mai multe ca acesta

Genetic Syndromes

creat de Patrick Teloken

Multiple Sclerosis (MS) Pathophysiology

creat de Qabas Al-Jobori

MedChem of MS

creat de Qabas Al-Jobori

MedChem of MS

creat de Qabas Al-Jobori

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