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Article

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Molecular genetics and metabolism - 1 Nov 2015

Palmer Elizabeth Emma, Hayner Jaclyn, Sachdev Rani, Cardamone Michael, Kandula Tejaswi, Morris Paula, Dias Kerith-Rae, Tao Jiang, Miller David, Zhu Ying, Macintosh Rebecca, Dinger Marcel E, Cowley Mark J, Buckley Michael F, Roscioli Tony, Bye Ann, Kilberg Michael S, Kirk Edwin P

Abstract excerpt

Asparagine Synthetase Deficiency is a recently described cause of profound intellectual disability, marked progressive cerebral atrophy and variable seizure disorder. To date there has been limited functional data explaining the underlying pathophysiology. We report a new case with compound heter...

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Identifiers

PMID: 26318253
DOI: 10.1016/j.ymgme.2015.08.007
PMCID: PMC10152381

Genes

ASNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26318253-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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