A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

Structure-based mutant stability predictions on proteins of unknown structure

(2012) Giulia Gonnelli et al.   JOURNAL OF BIOTECHNOLOGY

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

(2011) Yves Dehouck et al.   BMC BIOINFORMATICS

The adult galactosemic phenotype

(2011) Susan E. Waisbren et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography

(2010) Martijn Lindhout et al.   CLINICA CHIMICA ACTA

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

(2009) J M Flanagan et al.   HEREDITY

Negative screening tests in classical galactosaemia caused by S135L homozygosity

(2009) E. Crushell et al.   JOURNAL OF INHERITED METABOLIC DISEASE

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families

(2009) Laura Gort et al.   MEDICINA CLINICA

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family

(2008) J. S. Chhay et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The SWISS-MODEL Repository and associated resources

(2008) F. Kiefer et al.   NUCLEIC ACIDS RESEARCH