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Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.

Neurology - 13 Aug 2013

Mohamed Miski, Ashikov Angel, Guillard Mailys, Robben Joris H, Schmidt Samuel, van den Heuvel B, de Brouwer Arjan P M, Gerardy-Schahn Rita, Deen Peter M T, Wevers Ron A, Lefeber Dirk J, Morava Eva

Abstract excerpt

OBJECTIVE: To identify the underlying genetic defect in a patient with intellectual disability, seizures, ataxia, macrothrombocytopenia, renal and cardiac involvement, and abnormal protein glycosylation. METHODS: Genetic studies involved homozygosity mapping by 250K single nucleotide polymorphism array and SLC35A1 sequencing. Functional studies included biochemical assays for N-glycosylation and mucin-type...

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PMID: 23873973
DOI: 10.1212/WNL.0b013e3182a08f53

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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