Associated Papers
SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.
Risso B et al.
International Journal of Molecular Sciences, 2025
41373710 (PubMed )
Supplement: ijms-26-11560-s001.zip › ijms-4001327-supplementary.xlsx › Foglio1
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Jáñez Pedrayes A et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
Abuduxikuer K et al.
Frontiers in Genetics, 2021
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Han J et al.
Prenatal Diagnosis, 2020
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Breuss MW et al.
Nature Medicine, 2020
31873310 (PubMed )
Supplement: NIHMS1544276-supplement-2.xlsx › Supplementary_Data_1
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG et al.
Human Mutation, 2019
Fetal phenotypes of congenital disorder of glycosylation: A case presentation.
Yang YD et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2019
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