Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry

Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neonate was positive among 600,000 infants born in Sa...

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Detalles Bibliográficos
Autores principales: Shigetomi, Hiroko, Tanaka, Toju, Nagao, Masayoshi, Tsutsumi, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548893/
https://www.ncbi.nlm.nih.gov/pubmed/33072931
http://dx.doi.org/10.3390/ijns4010005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548893/
https://www.ncbi.nlm.nih.gov/pubmed/33072931
http://dx.doi.org/10.3390/ijns4010005

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