Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Haskovic M et al.
Journal of Inherited Metabolic Disease, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Garcia DF et al.
Bmc Medical Genetics, 2016
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
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Boutron A et al.
Molecular Genetics and Metabolism, 2012
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Calderon FR et al.
Human Mutation, 2007
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L et al.
Journal of Inherited Metabolic Disease, 2006
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