Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 72, Issue 1, 2012, Pages 29-33

  Cangemi, Giuliana ^a   Barco, Sebastiano ^a   Barbagallo, Laura ^a   Di Rocco, Maja ^a   Paci, Sabrina ^b   Giovannini, Marcello ^b   Biasucci, Giacomo ^c   Lia, Rosanna ^d   Melioli, Giovanni ^a  

^a G GASLINI INSTITUTE   (Italy)

^b AO San Paolo   (Italy)

^c AUSL Piacenza   (Italy)

^d AO Locri ^*  (Italy)

Author keywords

Gal 1 P; Galactosemia; GALT; GC MS; Inborn error

Indexed keywords

GALACTOSE PHOSPHATE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIET THERAPY; ERYTHROCYTE; GALACTOSEMIA; GAS CHROMATOGRAPHY; HUMAN; LABORATORY TEST; MASS SPECTROMETRY; NEWBORN; PATIENT COMPLIANCE; PATIENT MONITORING; PRIORITY JOURNAL; PROCESS OPTIMIZATION; VALIDATION PROCESS;

ADULT; CALIBRATION; CASE-CONTROL STUDIES; DIAGNOSTIC TECHNIQUES AND PROCEDURES; ERYTHROCYTES; GALACTOSEMIAS; GALACTOSEPHOSPHATES; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT, NEWBORN; LIMIT OF DETECTION; REFERENCE STANDARDS;

EID: 84856049252     PISSN: 00365513     EISSN: 15027686     Source Type: Journal    
DOI: 10.3109/00365513.2011.622409     Document Type: Article

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