Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants
Expanding the Phenotype Spectrum of β-Mannosidosis.
Martin Rios AM et al.
Neurology. Genetics, 2025
Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.
Kapur P et al.
Jci Insight, 2024
38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.
Lund TC et al.
Molecular Genetics & Genomic Medicine, 2019
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