Gaucher's Disease

Descrição

WBC Disorders Mapa Mental sobre Gaucher's Disease, criado por Sylvia Smith em 20-11-2013.
Sylvia Smith
Mapa Mental por Sylvia Smith, atualizado more than 1 year ago
Sylvia Smith
Criado por Sylvia Smith mais de 10 anos atrás
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Resumo de Recurso

Gaucher's Disease
  1. Autosomal recessive disorder
    1. Single-gene mutation
    2. Abnormal facial features
      1. Liver enlargement
        1. European Jewish
          1. Prenatal counseling
            1. Genetic screening
            2. No cure
              1. Supportive therapy
                1. Severe manifestations
                2. Enzyme replacement therapy
                  1. Biosyntheitc enzyme material
                    1. Limited quantities
                    2. Bone marrow transplantation
                    3. Bone marrow cell
                      1. Large
                        1. Rod-shaped inclusions
                          1. Crinkled tissue paper
                        2. Lipid storage disease
                          1. Missing enzyme B-Glucocerebrosidase
                            1. Undigested metabolic accumulation
                          2. Infant-to-adult onset
                            1. Infant onset
                              1. More severe
                                1. Shorter life-span

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