Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening

Citrin deficiency belongs to a group of urea cycle disorders that can be identified during newborn screening by measuring citrulline, phenylalanine, methionine, and galactose levels. Early diagnosis of citrin deficiency is beneficial as disease-specific interventions such as permission of food prefe...

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Detalles Bibliográficos
Autores principales: Suzuki, Toshihiro, Wada, Yoichi, Mikami-Saito, Yasuko, Kikuchi, Atsuo, Kure, Shigeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856906/
https://www.ncbi.nlm.nih.gov/pubmed/35242568
http://dx.doi.org/10.1016/j.ymgmr.2021.100834

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856906/
https://www.ncbi.nlm.nih.gov/pubmed/35242568
http://dx.doi.org/10.1016/j.ymgmr.2021.100834

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