Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Sabir MS et al.
Jimd Reports, 2025
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Barmherzig R et al.
Pediatric Neurology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
Mochel F et al.
Neurology, 2010
[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].
Eto Y
Ryoikibetsu Shokogun Shirizu, 1998
[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
Yano T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995
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