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September 25, 2026BiomoleculesOpen Access

Asparagine Synthetase Deficiency: A Novel ASNS Variant and a Systematic Review of Clinical Phenotypes and Cerebrospinal Fluid Asparagine Levels

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Authors

PLPatryk LipińskiPostgraduate School of Molecular MedicineSGSandra GórskaJBJulia Brąszkiewicz

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Cite This Study

Lipiński et al. (2026) studied this question.

synapsesocial.com/papers/6ab60ebd406bf401c1467287https://doi.org/10.3390/biom16101377
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Asparagine synthetase deficiency: clinical features and experience with asparagine supplementation2026
  2. 2A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency2026 · 1 citations
  3. 3A novel variant in <scp><i>ASNS</i></scp> gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review2024 · 2 citations
  4. 4Reverse Phase Proteomic Array Profiling of Asparagine Synthetase Expression in Newly Diagnosed Acute Myeloid Leukemia2024
  5. 5Stroke-like lesion and status epilepticus in a child with NARS2-related combined oxidative phosphorylation deficiency 242025