Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening

OBJECTIVE: To investigate the clinical and gene mutation characteristics of fatty acid oxidative metabolic diseases found in neonatal screening. METHODS: A retrospective analysis was performed on 29,948 neonatal blood tandem mass spectrometry screening samples from January 2018 to December 2021 in o...

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Detalles Bibliográficos
Autores principales: Wang, Xiaoxia, Fang, Haining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10254624/
https://www.ncbi.nlm.nih.gov/pubmed/37305019
http://dx.doi.org/10.2147/PGPM.S402760

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10254624/
https://www.ncbi.nlm.nih.gov/pubmed/37305019
http://dx.doi.org/10.2147/PGPM.S402760

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