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Peer-reviewedCC BYBiomolecules

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

  • Patryk Lipiński1
  • Sandra Górska2
  • Julia Brąszkiewicz2
  • Małgorzata Rydzanicz3
  • Rafał Płoski3
  1. 1Third Department of Pediatrics, Center of Postgraduate Medical Education, 05-092 Dziekanów Leśny, Poland
  2. 2Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, 03-411 Warsaw, Poland; (S.G.); (J.B.)
  3. 3Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland; (M.R.); (R.P.)
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Cite

BibTeXRIS
BibTeX
@article{lipinski2026asparagine,
  title = {{Asparagine Synthetase Deficiency: A Novel ASNS Variant and a Systematic Review of Clinical Phenotypes and Cerebrospinal Fluid Asparagine Levels}},
  author = {Patryk Lipiński and Sandra Górska and Julia Brąszkiewicz and Małgorzata Rydzanicz and Rafał Płoski},
  journal = {Biomolecules},
  year = {2026},
  month = sep,
  url = {https://europepmc.org/article/PMC/PMC13702534},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Asparagine Synthetase Deficiency: A Novel ASNS Variant and a Systematic Review of Clinical Phenotypes and Cerebrospinal Fluid Asparagine Levels
AU  - Patryk Lipiński
AU  - Sandra Górska
AU  - Julia Brąszkiewicz
AU  - Małgorzata Rydzanicz
AU  - Rafał Płoski
PY  - 2026
DA  - 2026/09/22
JO  - Biomolecules
UR  - https://europepmc.org/article/PMC/PMC13702534
SN  - 2218-273X
ER  -