Ashwaq Shared "I-cell Disease (Inclusion Cell Disease)" - 1 Picmonics
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I-cell Disease (Inclusion Cell Disease)
- Pathophysiology
- Mucolipidosis II
- Autosomal Recessive
- Defective N-acetylglucosaminyl-1-phosphotransferase
- Absent Mannose-6-Phosphate on Glycoproteins
- Accumulation of Lysosomal Debris
- Signs & Symptoms
- Coarse Facies
- Corneal Clouding
- Skeletal Abnormalities
- Diagnosis
- Increased Plasma Lysosomal Enzymes
- Inclusion Bodies
- Considerations
- Poor Prognosis
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