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- W2004755184 abstract "La phénylcétonurie (PCU) est une maladie héréditaire, liée à un déficit de l’activité phénylalanine hydroxylase hépatique, qui entraîne une accumulation de la phénylalanine dans le sang, cause d’une arriération mentale profonde. Nous rapportons ici une fratrie de trois enfants présentant des stades et des signes cliniques différents de la PCU. Le but de cette observation est d’attirer l’attention des responsables de santé publique et des sociétés savantes marocaines sur l’intérêt de l’introduction au Maroc du dépistage néonatal systématique, afin de réduire un grand nombre de déficits mentaux et autres morbidités. Phenylketonuria (PKU) is an inherited disorder caused by a deficiency of the liver phenylalanine hydroxylase activity that increases the levels of a phenylalanine in the blood and causes severe mental retardation. We report the case of a family with three children; they have different forms and clinical signs of PKU. Our aim is to stress the health authorities and medical scientific societies in Morocco to introduce a newborn screening program to reduce a lot of mental deficiencies and morbidity." @default.
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- W2004755184 date "2015-03-01" @default.
- W2004755184 modified "2023-09-25" @default.
- W2004755184 title "La phénylcétonurie : le fardeau d’une famille marocaine Plaidoyer pour un dépistage systématique" @default.
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- W2004755184 doi "https://doi.org/10.1016/s1957-2557(15)30034-1" @default.
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