Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood. The newborn screening (NBS) algorithms for argina...

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Detalles Bibliográficos
Autores principales: Huang, Yue, Sharma, Rajesh, Feigenbaum, Annette, Lee, Chung, Sahai, Inderneel, Sanchez Russo, Rossana, Neira, Juanita, Brooks, Susan Sklower, Jackson, Kelly E., Wong, Derek, Cederbaum, Stephen, Lacbawan, Felicitas L., Rowland, Charles M., Tanpaiboon, Pranoot, Salazar, Denise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937551/
https://www.ncbi.nlm.nih.gov/pubmed/33732618
http://dx.doi.org/10.1016/j.ymgmr.2021.100735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937551/
https://www.ncbi.nlm.nih.gov/pubmed/33732618
http://dx.doi.org/10.1016/j.ymgmr.2021.100735

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