Associated Papers
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.
Sabir MS et al.
Molecular Genetics and Metabolism Reports, 2025
41280660 (PubMed )
Supplement: mmc3.pdf
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Sabir MS et al.
Jimd Reports, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Shinawi M et al.
Molecular Genetics and Metabolism, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc3.xlsx › Suppl_Table_3A
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Mena R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
Froissart R et al.
Journal of Medical Genetics, 2005
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.
Tylki-Szymańska A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2003
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Aula N et al.
American Journal of Human Genetics, 2000
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Verheijen FW et al.
Nature Genetics, 1999
Select a paper to view details