Detection of inherited neurometabolic disorders. A practical clinical approach.

Pediatr Clin North Am

Department of Pediatrics, University of Kansas Medical Center, Kansas City.

Published: August 1992

AI Article Synopsis

Article Abstract

The most common neurometabolic disorders to be considered are organic acidurias and amino acid apathies followed by urea cycle disorders, congenital lactic acidosis, peroxisomal disorders, and, less frequently, sphingolipidoses, mucopolysaccharidoses, glycoprotein degradation disorders, fatty acid oxidation disorders, and neuronal ceroid lipofuscinoses.

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0031-3955(16)38376-6DOI Listing

Publication Analysis

Top Keywords

neurometabolic disorders
8
disorders
6
detection inherited
4
inherited neurometabolic
4
disorders practical
4
practical clinical
4
clinical approach
4
approach common
4
common neurometabolic
4
disorders considered
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!