Associated Papers
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R et al.
Annals of Human Genetics, 2019
Sweet and sour: an update on classic galactosemia.
Coelho AI et al.
Journal of Inherited Metabolic Disease, 2017
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.
Coelho AI et al.
Jimd Reports, 2015
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Coelho AI et al.
Molecular Genetics & Genomic Medicine, 2014
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Coelho AI et al.
Journal of Inherited Metabolic Disease, 2014
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L et al.
Journal of Inherited Metabolic Disease, 2006
Genetic approaches to biochemical questions: insights into the functional requirements of proline 185 in the active site of human galactose-1-phosphate uridylyltransferase.
Quimby BB et al.
Saas Bulletin, Biochemistry and Biotechnology, 1997
Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase.
Quimby BB et al.
The Journal of Biological Chemistry, 1996
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