In our geographical context, all newborns are offered the heel prick test or neonatal screening for congenital diseases, which currently in the Valencian Community includes 10 diseases. The clinical guideline for the diagnosis of global developmental delay and intellectual disability of the American Academy of Neurology …
Category archives: Metabolism
Targeted screening tests.
Neonatal screening program.
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Treatable-ID
Treatable ID is a website and mobile application aimed at healthcare professionals, with the aim of organizing and systematizing the different metabolic diseases that can present developmental delay and intellectual disability as a clinical manifestation, to allow selecting and directing the diagnostic study. It has a section oriented by symptoms, which allows you to adjust...
Vademecum Metabolicum
The Vademecum Metabolicum website contains all the necessary information for the study, diagnosis, and treatment of inborn errors of metabolism.