Metabolic diseases - Sousa, Carla;Matos, Carla;Moutinho, Carla
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Inborn metabolic disorders represent a heterogeneous group of monogenic disorders caused by defects in a biochemical pathway due to the deficiency or abnormality of an enzyme, its cofactor, or a transporter, resulting in the accumulation of a substrate or toxic metabolite, or deficiency of a product. This chapter deals with biochemical changes resulting from inborn metabolic errors. It starts by approaching the historical perspective, worldwide prevalence, mortality, classification, and most frequent disorders, then focusing on advances in terms of diagnosis and treatment.

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Produktbeschreibung
Inborn metabolic disorders represent a heterogeneous group of monogenic disorders caused by defects in a biochemical pathway due to the deficiency or abnormality of an enzyme, its cofactor, or a transporter, resulting in the accumulation of a substrate or toxic metabolite, or deficiency of a product. This chapter deals with biochemical changes resulting from inborn metabolic errors. It starts by approaching the historical perspective, worldwide prevalence, mortality, classification, and most frequent disorders, then focusing on advances in terms of diagnosis and treatment.
Autorenporträt
Carla Sousa, która ma tytü doktora chemii, jest profesorem nadzwyczajnym na Uniwersytecie Fernando Pessoa. Ana F. Vinha, która posiada tytü doktora w dziedzinie biologii funkcjonalnej i nauk o zdrowiu, jest adiunktem na Uniwersytecie Fernando Pessoa. Ana Nunes, która posiada tytü doktora chemii, jest profesorem wizytuj¿cym na Uniwersytecie w Walencji i konsultantem naukowym dla przemys¿u farmaceutycznego.