O-Phosphohydroxylysinuria: a new inborn error of metabolism?
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference9 articles.
1. N'- (Carboxymethyl)lysine, a constituent of human urine;Wadman;Clin Chim Acta,1975
2. Phosphorylation of hydroxylysine residues in collagen synthesized by cultured aortic smooth muscle cells;Urushizaki,1985
3. High-resolution, 1H-nuclear magnetic resonance spectroscopy as a tool in the structural analysis of carbohydrates related to glycoproteins;Vliegenthart;Adv Carbohydr Chem Biochem,1983
4. Fast-atom bombardment tandem mass spectrometry of phosphohydroxylysine and related phosphohydroxy amino acids;Kulik;Rapid Commun Mass Spectrom,1989
5. Hydroxylysinemia: a disorder due to a defect in the metabolism of free hydroxylysine;Goodman;Biochem Med,1972
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1. Biochemical Phenotypes of Questionable Clinical Significance;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022
2. Focus on O-phosphohydroxylysine, O-phosphohydroxyproline, N 1-phosphotryptophan and S-phosphocysteine;Amino Acids;2017-06-03
3. Biochemical Phenotypes of Questionable Clinical Significance;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2014
4. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria;Journal of Inherited Metabolic Disease;2012-12-14
5. Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine;Journal of Biological Chemistry;2012-03
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