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Congenital Phorphyria

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(Inborn Errors of Metabolism) Year 2 Fichas sobre Congenital Phorphyria, creado por gina_evans0312 el 05/04/2014.
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Fichas por gina_evans0312, actualizado hace más de 1 año
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Creado por gina_evans0312 hace más de 10 años
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Resumen del Recurso

Pregunta Respuesta
Family of Diseases That prevent Haeme production
Potential Symptoms Skin blisters in sunlight, excessive hair on face and hands
Most Common Symptoms Neurological damage, bleeding and receeding gums (appear fanglike)
Source of Disease Irod gene mutation --> dec. Irod enzyme leads to inc porphyrin in skin
Treatment Blood transfusion
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