Associated Papers
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
Starosta RT et al.
Molecular Genetics and Metabolism, 2026
CDG due to Defective Membrane Transporters: Update.
Quelhas D et al.
Journal of Inherited Metabolic Disease, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.
Jadhao S et al.
Blood Advances, 2022
35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
Tahata S et al.
American Journal of Medical Genetics. Part A, 2022
Congenital disorders of glycosylation with defective fucosylation.
Hüllen A et al.
Journal of Inherited Metabolic Disease, 2021
Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.
Cooper N et al.
Clinical Immunology (orlando, Fla.), 2020
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.
Knapp KM et al.
Journal of Human Genetics, 2020
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
Dauber A et al.
Human Molecular Genetics, 2014
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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