EC PAEDIATRICS Case Report Clinical Manifestations of Anderson-Fabry’s Disease in Pediatrics
نویسندگان
چکیده
The initial clinical manifestations of the Anderson Fabry Disease are unspecific and analizing them independently doesn ́t leave to a specific diagnosis. This is why at this time, this disease represents a diagnostic challenge. A prompt identification and determination of signs and symptoms in the pediatric patients will lead to an opportune disease diagnosis and an early enzymatic replacement therapy (ERT) with a better patient clinical evolution. This study pretends to register different AFD signs and symptoms at different pediatric stages, getting to know the clinical evolution of those patients and giving the pediatricians, important diagnostic tools to begin the TRE as soon as possible.
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