Associated Papers
Clinical and genetic features of Classic Galactosemia in the south of Brazil.
Simão Medeiros L et al.
Molecular Genetics and Metabolism, 2025
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
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
23690308 (PubMed )
Supplement: 1.jc-13-1374_fig1_tab2.pdf
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