A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy
Abstract:
The NMR urine analysis of a term newborn with severe general deterioration of the clinical state revealed the presence in high concentrations of orotic and argininosuccinic acids. The newborn was suspected for an intoxication-like inborn error of metabolism, and the urine samples were followed up by NMR spectroscopy for several days in order to assess the metabolic pattern. The identified markers led to a definitive biochemical diagnosis of argininosuccinic aciduria.
Cite this article as: VULTURAR, R., CHIS, A., BAIZAT, M., COZMA, A., SUHAROSCHI, R., NICOLESCU, A., DELEANU, C., A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy, Rev. Chim., 71(3), 2020, 210-218.
Vancouver Vulturar R, Chis A, Baizat M, Cozma A, Suharoschi R, Nicolescu A, Deleanu C. A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy. Rev. Chim.[internet]. 2020 Mar;71(3):210-218. Available from: https://doi.org/10.37358/RC.20.3.7990
APA 6th edition Vulturar, R., Chis, A., Baizat, M., Cozma, A., Suharoschi, R., Nicolescu, A. & Deleanu, C. (2020). A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy. Revista de Chimie, 71(3), 210-218. https://doi.org/10.37358/RC.20.3.7990
Harvard Vulturar, R., Chis, A., Baizat, M., Cozma, A., Suharoschi, R., Nicolescu, A., Deleanu, C. (2020). 'A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy', Revista de Chimie, 71(3), pp. 210-218. https://doi.org/10.37358/RC.20.3.7990
IEEE R. Vulturar, A. Chis, M. Baizat, A. Cozma, R. Suharoschi, A. Nicolescu, C. Deleanu, "A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy". Revista de Chimie, vol. 71, no. 3, pp. 210-218, 2020. [online]. https://doi.org/10.37358/RC.20.3.7990
Text Romana Vulturar, Adina Chis, Melinda Baizat, Angela Cozma, Ramona Suharoschi, Alina Nicolescu, Calin Deleanu, A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy, Revista de Chimie, Volume 71, Issue 3, 2020, Pages 210-218, ISSN 2668-8212, https://doi.org/10.37358/RC.20.3.7990. (https://revistadechimie.ro/Articles.asp?ID=7990) Keywords: urea cycle disorders (UCD); argininosuccinic aciduria (ASA); argininosuccinate lyase (ASL); NMR spectroscopy; inborn errors of metabolism (IEM).
RIS TY - JOUR T1 - A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy A1 - Vulturar, Romana A2 - Chis, Adina A3 - Baizat, Melinda A4 - Cozma, Angela A5 - Suharoschi, Ramona A6 - Nicolescu, Alina A7 - Deleanu, Calin JF - Revista de Chimie JO - Rev. Chim. PB - Revista de Chimie SRL SN - 2668-8212 Y1 - 2020 VL - 71 IS - 3 SP - 210 EP - 218 UR - https://doi.org/10.37358/RC.20.3.7990 KW - urea cycle disorders (UCD) KW - argininosuccinic aciduria (ASA) KW - argininosuccinate lyase (ASL) KW - NMR spectroscopy KW - inborn errors of metabolism (IEM). ER -
BibTex @article{RevCh2020P210, author = {Vulturar Romana and Chis Adina and Baizat Melinda and Cozma Angela and Suharoschi Ramona and Nicolescu Alina and Deleanu Calin}, title = {A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy}, journal = {Revista de Chimie}, volume = {71}, number = {3}, pages = {210-218}, year = {2020}, issn = {2668-8212}, doi = {https://doi.org/10.37358/RC.20.3.7990}, url = {https://revistadechimie.ro/Articles.asp?ID=7990} }
