Abstract | BACKGROUND: METHODS: In this study, we will describe the optimization and laboratory validation of a previously published quantitative gas chromatographic-mass spectrometric method and its clinical validation on normal donors and galactosemic patients both at the diagnosis and during the follow-up. RESULTS: The method was technically optimized and validated for its clinical use on normal donors and galactosemic newborns, children and adults. The method was suitable for the monitoring of dietary compliance. Galactose-1-phosphate levels were found to be well correlated with the clinical signs in the galactosemic patients at the follow-up. CONCLUSIONS:
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Authors | Giuliana Cangemi, Sebastiano Barco, Laura Barbagallo, Maja Di Rocco, Sabrina Paci, Marcello Giovannini, Giacomo Biasucci, Rosanna Lia, Giovanni Melioli |
Journal | Scandinavian journal of clinical and laboratory investigation
(Scand J Clin Lab Invest)
Vol. 72
Issue 1
Pg. 29-33
(Feb 2012)
ISSN: 1502-7686 [Electronic] England |
PMID | 22017166
(Publication Type: Journal Article, Validation Study)
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Chemical References |
- Galactosephosphates
- galactose-1-phosphate
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Topics |
- Adult
- Calibration
- Case-Control Studies
- Diagnostic Techniques and Procedures
(standards)
- Erythrocytes
(metabolism)
- Galactosemias
(blood, diagnosis)
- Galactosephosphates
(blood)
- Gas Chromatography-Mass Spectrometry
(standards)
- Humans
- Infant, Newborn
- Limit of Detection
- Reference Standards
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