Liesbeth Keldermans
Leuven, VLG, Belgium
Last Updated: 09/26/2026
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Found 17 publications
COG6-CDG: Novel variants and novel malformation.
Journal: Birth defects research
Published: November 20, 2021
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Journal: Human molecular genetics
Published: September 13, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Journal: American journal of human genetics
Published: August 20, 2021
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.
Journal: European journal of neurology
Published: July 22, 2021
MAN1B1-CDG: novel patients and novel variant.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 19, 2021
SLC35A2-CDG: Novel variant and review.
Journal: Molecular genetics and metabolism reports
Published: December 08, 2020
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Journal: The Journal of pediatrics
Published: August 04, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Journal: American journal of human genetics
Published: March 13, 2020
Challenges in molecular diagnosis of X-linked Intellectual disability.
Journal: British medical bulletin
Published: July 03, 2019
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 01, 2019
Galactose Epimerase Deficiency: Expanding the Phenotype.
Journal: JIMD reports
Published: November 25, 2016
Last Updated: 09/26/2026