Associated Papers
Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Wang X et al.
Genome Medicine, 2025
40355959 (PubMed )
Supplement: 13073_2025_1483_MOESM1_ESM.pdf
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA et al.
Journal of Neuroscience Research, 2016
A role for TENM1 mutations in congenital general anosmia.
Alkelai A et al.
Clinical Genetics, 2016
27040985 (PubMed )
Supplement: supplement_1.pdf
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