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 ... Disease #Diagnosis #Signs
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
Amyotrophic Lateral ... examination finding of amyotrophy ... lateral sclerosis Pathophysiology ... Lateral #Sclerosis #neurology ... #diagnosis #management