Preferred Label : Congenital Metabolic Disorder;

NCIt synonyms : Inborn Errors of Metabolism; Congenital Metabolism Disorder;

NCIt related terms : Inborn Error of Metabolism;

NCIt definition : A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.;

Détails


Consulter ci-dessous une sélection des principales ressources :

Vous pouvez consulter :


https://www.has-sante.fr/jcms/p_3426280/fr/depistage-neonatal-reevaluation-de-l-opportunite-d-integrer-cinq-erreurs-innees-du-metabolisme-au-programme-de-dnn
2024
France
public health guidelines
Newborn Screening
Schedule
metabolic disease, nos
Integrator Device
Integrated
neonatal screening, nos
metabolism, inborn errors
neonatal screening
Severity One Out of Five
Congenital Metabolic Disorder
Scheduled
Metabolic Programming

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30/07/2025


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