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Article

L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.

Molecular genetics and metabolism - 1 Mar 2026

Starosta Rodrigo T, He Miao, Gracie Sara, Kierstein Janell, Thiel Christian, Himmelreich Nastassja, Liu Yupeng, Zhang Wenyue, Edmondson Andrew C, Meeks Naomi, Larson Austin, Van Hove Johan L K, Kochhar Aaina

Abstract excerpt

Fucosylation disorders are rare types of congenital disorders of glycosylation (CDG), the most common being SLC35C1-CDG, which is classically described as a leukocyte adhesion deficiency (hence the previous name of "leukocyte adhesion deficiency type II") with dysmorphic features, short stature, and moderate-to-severe developmental and intellectual disabilities. In more recent years, several cases have been...

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Identifiers

PMID: 41529427
DOI: 10.1016/j.ymgme.2026.109727
PMCID: PMC13135868

Genes

SLC35C1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.PMID 41529427Read ↗

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