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Article

Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene.

CNS & neurological disorders drug targets - 1 Jan 2020

Ishtiaq Hina, Siddiqui Sonia, Nawaz Rukhsana, Jamali Khawar Saeed, Khan Abdul Ghani

Abstract excerpt

BACKGROUND: Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDPGlcNAc 2-Epimerase/ManNAc Kinase (GNE/MNK). OBJECTIVE: This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/adolescents. METHODS: The current study...

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Identifiers

PMID: 32053088
DOI: 10.2174/1871527319666200213115747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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