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[Practical approach to the diagnosis of inherited metabolic diseases].
Medicina 2022 August 31
Inborn errors of metabolism constitute a growing group of rare diseases with usual neurological impact. Heterogeneous in clinical and biochemical aspects, its diagnosis and treatment are difficult. Advances in its knowledge, in diagnostic methods and in its treatments, highlight the importance of a timely diagnosis, the gateway to access to early medical intervention. The neuropediatrician's suspicion in different clinical situations is very relevant. This article aims to be a practical contribution to facilitate their recognition.
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