LC-MS/MS Method for Simultaneous Determination on a Dried Blood Spot of Multiple Analytes Relevant for Treatment Monitoring in Patients with Tyrosinemia Type I

Author:

la Marca Giancarlo12,Malvagia Sabrina1,Materazzi Serena12,Della Bona Maria Luisa1,Boenzi Sara3,Martinelli Diego3,Dionisi-Vici Carlo3

Affiliation:

1. Mass Spectrometry Laboratory, Clinic of Pediatric Neurology, Meyer University Children’s Hospital, Florence, Italy

2. Department of Pharmacology, University of Florence, Florence, Italy

3. Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy

Publisher

American Chemical Society (ACS)

Subject

Analytical Chemistry

Reference17 articles.

1. Mitchell, G. A.; Grompe, M.; Lambert, M.; Tanguay, R. M.InThe Metabolic and Molecular Bases of Inherited Disease,8th ed.Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Eds.McGraw-Hill:New York, 2001; pp1777–1806.

2. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

3. NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

4. Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1

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