التفاصيل البيبلوغرافية
| العنوان: |
ENFOQUE PRÁCTICO EN EL DIAGNÓSTICO DE LOS ERRORES CONGÉNITOS DEL METABOLISMO. (Spanish) |
| Alternate Title: |
Practical approach to the diagnosis of inherited metabolic diseases. (English) |
| المؤلفون: |
SZLAGO, MARINA |
| المصدر: |
Medicina (Buenos Aires); 2022 Supplement, Vol. 82, p40-45, 6p |
| Abstract (English): |
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. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
Los errores congénitos del metabolismo constituyen un grupo creciente de enfermedades poco frecuentes con habitual impacto neurológico. Heterogéneas en el aspecto clínico y bioquímico, su diagnóstico y terapéutica son dificultosos. Los avances en su conocimiento, en los métodos diagnósticos y en sus tratamientos, ponen de relevancia lo importante de un diagnóstico oportuno, puerta del acceso a la intervención médica temprana. Es muy relevante la sospecha del neuropediatra ante diferentes situaciones clínicas. El presente artículo pretende ser un aporte práctico para facilitar su reconocimiento. [ABSTRACT FROM AUTHOR] |
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