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Sindrome de Zellweger

Description

Mind Map on Sindrome de Zellweger, created by Sara Castillo on 04/09/2019.

Mind Map by Sara Castillo, updated more than 1 year ago

	Created by Sara Castillo almost 5 years ago

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Resource summary

Sindrome de Zellweger

Desarrollo histórico
1. 1960, Caso clinico de dos pares de hermanos
2. 1964, Reporte enfermedad autosomatica recesiva
3. 1973, conexion perixosoma
Causas
1. Alteraciones genéticas
2. Herencia autosomatica recesiva
  1. Perdida/ Escases perixosomas
Forma de diagnostico
1. Sospecha
  1. Examen físico
2. Confirmación
  1. Evaluacion biomedica
Tratamiento
1. No hay cura
2. Medicamentos epilepticos
3. Vitaminas lipósolubles
4. Gastrostomia
5. Farmacos
Protocolo medico
1. Cuantificación de acidos grasos -cadena larga
2. Estudios de neuro imagen, ecografía rena,radiografía de esqueleto
3. Biopsia de diversos tejidos
investigación biomedica
1. Incubacion en celulas THCA
2. Acido cólico
3. Acidos biliares

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