Asymptomatic ASS1 carriers with high blood citrulline levels

INTRODUCTION: Citrullinemia Type 1 (CTLN1) is an autosomal recessive disorder caused by variants in the ASS1 gene. This study intends to clarify the etiology of false positives in newborn screening for citrullinemia. METHOD: Newborns who had elevated dried‐blood spot citrulline levels were enrolled,...

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Detalles Bibliográficos
Autores principales: Chen, Hui‐An, Hsu, Rai‐Hseng, Chang, Kai‐Ling, Huang, Yi‐Chen, Chiang, Yun‐Chen, Lee, Ni‐Chung, Hwu, Wuh‐Liang, Chiu, Pao‐Chin, Chien, Yin‐Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482393/
https://www.ncbi.nlm.nih.gov/pubmed/35726796
http://dx.doi.org/10.1002/mgg3.2007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482393/
https://www.ncbi.nlm.nih.gov/pubmed/35726796
http://dx.doi.org/10.1002/mgg3.2007

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