Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department.
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ABSTRACT:
SUBMITTER: Solares I
PROVIDER: S-EPMC8621113 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Publications
Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department.
Solares Isabel I Heredia-Mena Carlos C Castelbón Francisco Javier FJ Jericó Daniel D Córdoba Karol Marcela KM Fontanellas Antonio A Enríquez de Salamanca Rafael R Morales-Conejo Montserrat M
Diagnostics (Basel, Switzerland) 20211119 11
Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate ...[more]
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