Associated Papers
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
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Molecular Genetics and Metabolism, 2026
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
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Blood Cells, Molecules & Diseases, 2023
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA et al.
American Journal of Medical Genetics. Part A, 2021
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