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2019
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Ferreira, Carlos R. +1 more
openaire +2 more sources
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Ferreira, Carlos R. +1 more
openaire +2 more sources
2012
Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
openaire +2 more sources
Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
openaire +2 more sources