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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Authors: Rodrigo Tzovenos Starosta, Miao He, Sara Gracie, Janell Kierstein, Christian T. Thiel, Nastassja Himmelreich, Yupeng Liu, Wenyue Zhang, Andrew C. Edmondson, Naomi J. L. Meeks, Austin A Larson, Johan L.K. Van Hove
+1 more Aaina Kochhar
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References: 30

Fields of Study & Subjects

Glycosylation and Glycoproteins Research Infant Nutrition and Health Lysosomal Storage Disorders Research

Publication details

Journal / source
Molecular Genetics and Metabolism
Volume
147
Issue
3
Pages
109727–109727
Publication date
8 January 2026
Language
EN