Associated Papers
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S et al.
Journal of Inherited Metabolic Disease, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A et al.
International Journal of Molecular Sciences, 2022
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B et al.
Orphanet Journal of Rare Diseases, 2022
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
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