THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM IN PREVIOUSLY UNDIAGNOSED ADULTS REFERRED FOR MEDICAL GENETICS EVALUATION

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

Traditionally thought of as a pediatric diagnostic and therapeutic dilemma, the diagnostic rate and spectrum of inborn errors of metabolism (IEM) in the adult population is largely unknown.A retrospective chart review of patients seen by the Michigan Medicine Adult Medical Genetics Clinic for clinical evaluation from 2014 to 2018 was conducted.Pati

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LAS PROFESIONES, LAS COMPETENCIAS Y EL MERCADO

RESUMENExiste una cierta inquietud en algunos profesores universitarios de que la formación promovida a través del Espacio Europeo de Educación Superior se diseñe y se materialice orientándose hacia las empresas.Esta desazón es pertinente y hay que estar atento a ello, pero en este texto se argumenta contra

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Clinical profile of childhood blindness and inappropriate enrolment of children in schools for visually impaired in Uttar Pradesh, India

Purpose: To assess major causes of severe visual impairment (SVI)/blindness (BL) in children studying in schools for the blind in western Uttar Pradesh, India and the extent of inappropriate enrolment of children in blind schools.Methods: Students of five schools for the blind were examined in a tertiary care eye hospital.The anatomical sites and e

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