Dysmorphic features in a newborn with neurological, liver and kidney involvement by defective peroxisomal biogenesis. Case report

Introduction: Inborn errors of metabolism have significant morbidity and mortality rates in the neonatal period. One of these disorders is defective peroxisomal biogenesis, which causes complex and severe clinical pictures because peroxisomes are present in all nucleated cells of mammals. Case prese...

Full description

Bibliographic Details
Main Authors: Yolanda Cifuentes, Clara Arteaga
Format: Article
Language:English
Published: Universidad Nacional de Colombia 2020-01-01
Series:Case Reports
Subjects:
Online Access:https://revistas.unal.edu.co/index.php/care/article/view/78747