A: Key quality measures include time from symptom onset to diagnosis, proportion of patients receiving appropriate clinical assessment, treatment response rates, and patient satisfaction with the diagnostic process
Severe multisystem symptoms require specialist evaluation Seizures, metabolic strokes, severe weakness, cardiomyopathy, developmental regression, exercise-induced rhabdomyolysis, lactic acidosis, major hearing or vision loss and strong maternal inheritance patterns may require neurological, metabolic or genetic evaluation
Agarwal R, Filippatos G, Pitt B, et al
Our team recommends it for research demanding maximal efficacy and minimal variability
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