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- W2625959337 abstract "Background: Snyder-Robinson syndrome (SRS) is a rare X-linked mental retardation syndrome caused by mutations in the spermine synthase (SMS) gene. SMS dysfunction causes a reduction in intracellular spermine, a polyamine involved in various cellular processes. To date, the diagnosis of SRS relied on an elevated spermidine/spermine ratio in lymphoblasts and/or sequencing of the SMS gene." @default.
- W2625959337 created "2017-06-23" @default.
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- W2625959337 date "2015-04-16" @default.
- W2625959337 modified "2023-10-18" @default.
- W2625959337 title "A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)" @default.
- W2625959337 doi "https://doi.org/10.1055/s-0035-1550656" @default.
- W2625959337 hasPublicationYear "2015" @default.
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