Journal article
Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism
Abstract
OBJECTIVES: To evaluate the status of pediatric reference intervals for several biomarkers of inborn errors of metabolism (IEM).
INTRODUCTION: There are several biomarkers that are used in many laboratories that specialize in biochemical genetics. Among them, there are acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid and very long chain fatty acids. These tests are key to exclusion or inclusion of an IEM, …
Authors
Lepage N; Li D; Kavsak PA; Bamforth F; Callahan J; Dooley K; Potter M
Journal
Clinical Biochemistry, Vol. 39, No. 6, pp. 595–599
Publisher
Elsevier
Publication Date
June 2006
DOI
10.1016/j.clinbiochem.2006.02.011
ISSN
0009-9120