Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies

Author:

Li Yijun,Ptolemy Adam S.,Harmonay Lauren,Kellogg Mark,Berry Gerard T.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference18 articles.

1. National Newborn Screening Report, 1999;National Newborn Screening and Genetics Resource Center,2002

2. Disorders of galactose metabolism;Segal,2001

3. Disorders of galactose metabolism;Berry,2006

4. Galactosemia;Fridovich-Keil,2008

5. Pitfalls in the radioactive method of galactose-1-phosphate uridyltransferase activity measurement;Shin-Buehring;Clin. Chim. Acta,1980

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