Related references
Note: Only part of the references are listed.Screening for galactosemia: is there a place for it?
Magd A. Kotb et al.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2019)
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)
Marzia Pasquali et al.
GENETICS IN MEDICINE (2018)
Sweet and sour: an update on classic galactosemia
Ana I. Coelho et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests
Barbara W. Adam et al.
CLINICAL BIOCHEMISTRY (2015)
European Medicines Agency guideline on bioanalytical method validation: what more is there to say?
Graeme Smith
BIOANALYSIS (2012)
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies
Yijun Li et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Quantification of Galactose-1-Phosphate Uridyltransferase Enzyme Activity by Liquid Chromatography-Tandem Mass Spectrometry
Yijun Li et al.
CLINICAL CHEMISTRY (2010)
Classical galactosaemia revisited
Annet M. Bosch
JOURNAL OF INHERITED METABOLIC DISEASE (2006)