Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

OBJECTIVE: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by thyroidal (primary CH) or hypothalamic/pituitary (central CH) disturbances. Most CH newborn screening (NBS) programs are thyroid-stimulating-hormone (TSH) based, thereby only detecting primary CH....

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Detalles Bibliográficos
Autores principales: Jansen, Heleen I, van Haeringen, Marije, Bouva, Marelle J, den Elzen, Wendy P J, Bruinstroop, Eveline, van der Ploeg, Catharina P B, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C, Bosch, Annet M, de Jonge, Robert, Hoogendoorn, Mark, Boelen, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692681/
https://www.ncbi.nlm.nih.gov/pubmed/37855424
http://dx.doi.org/10.1530/ETJ-23-0141

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