5862 results
Lysosomal Storage Disorders

Mucolipidoses
 • I-Cell Disease

Mucopolysaccharidoses
 • Hurler
 • Hunter

Sphingolipidoses
 • Tay Sachs
 • Fabry
 •
Lysosomal Storage ... #Lysosomal #Storage ... pathophysiology #diagnosis
Etiologies of restrictive cardiomyopathy.
 - Noninfiltrative disorders 
 - Infiltrative disorders 
 - Storage diseases
disorders - Storage ... #differential #diagnosis
Etiologies of hypertrophic cardiomyopathy
 - Genetic 
 - Storage diseases 
 - Neuromuscular and mitochondrial disorders
- Genetic - Storage ... #differential #diagnosis
Infectious Risks in Asplenia and Deficiencies in Humoral Immunity and Complement - Venn Diagram
Humoral Immunity:
 •
Antibodies Spleen: • Storage ... bacteria) • Storage ... #differential #diagnosis
Primary and Secondary Causes of Cardiomyopathy
(a) Primary cardiomyopathies 
 - Genetic 
 - Mixed (genetic/acquired)
Infiltrative* - Storage ... cancer therapy #Diagnosis
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
• Lysosomal storage ... in macrophages Diagnosis ... Gauchers #Disease #Diagnosis
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
Cardiomyopathy - Diagnosis ... Hyperoxaluria • Storage ... Other Glycogen Storage ... Cardiomyopathy #Diagnosis
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
excluding complex storage ... Pathophysiology #Diagnosis
Causes of Splenomegaly - Differential Diagnosis Algorithm
Infectious
 • Bacterial
 • Viral (EBV)
 • Parasitic
 • Fungal
Congestive
- Differential Diagnosis ... Disease • Glycogen Storage ... #Differential #Diagnosis
Causes of Diffuse Lung Disease. 
Collagen vascular 
 - Scleroderma 
 - Rheumatoid arthritis 
 -
- Metabolic storage ... chemotherapy #Diagnosis