374194
Beschreibung
Mindmap von Sylvia Smith, aktualisiert more than 1 year ago
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Erstellt von Sylvia Smith
vor mehr als 10 Jahre
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Gaucher's Disease
- Autosomal recessive disorder
- Single-gene mutation
- Single-gene mutation
- Abnormal facial features
- Liver enlargement
- European Jewish
- Prenatal counseling
- Genetic screening
- Prenatal counseling
- No cure
- Supportive therapy
- Severe manifestations
- Severe manifestations
- Enzyme replacement therapy
- Biosyntheitc enzyme material
- Limited quantities
- Biosyntheitc enzyme material
- Bone marrow transplantation
- Supportive therapy
- Bone marrow cell
- Large
- Rod-shaped inclusions
- Crinkled tissue paper
- Crinkled tissue paper
- Large
- Lipid storage disease
- Missing enzyme B-Glucocerebrosidase
- Undigested metabolic accumulation
- Undigested metabolic accumulation
- Missing enzyme B-Glucocerebrosidase
- Infant-to-adult onset
- Infant onset
- More severe
- Shorter life-span
- More severe
- Infant onset
Medienanhänge
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