2 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... Osteonecrosis, bone ... infarcts, osteoporosis ... #Signs #Symptoms
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
Amyotrophic Lateral ... sclerosis Pathophysiology ... Presentation: - Disease ... course of the disease ... #neurology #diagnosis