Method development and validation for analysis of phenylalanine, 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid in serum and urine

Abstract Alkaptonuria (AKU) is a rare debilitating autosomal recessive disorder of tyrosine (TYR) metabolism which results in a deficiency of the enzyme homogentisate 1,2‐dioxygenase activity. Several studies have reported the metabolic changes in homogentisic acid (HGA) concentrations and subsequen...

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Bibliographic Details
Main Authors: Andrew T. Hughes, Anna M. Milan, Ella Shweihdi, James Gallagher, Lakshminarayan Ranganath
Format: Article
Language:English
Published: Wiley 2022-07-01
Series:JIMD Reports
Subjects:
Online Access:https://doi.org/10.1002/jmd2.12287