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Déficit en carbamoyl-phosphate synthétase 1

Translation of "Déficit en carbamoyl-phosphate synthétase 1 " (French → English) :

TERMINOLOGY
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déficit en carbamoyl-phosphate synthétase 1
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A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a pre
SNOMEDCT-BE (disorder) / 765329008
SNOMEDCT-BE (disorder) / 765329008
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IN-CONTEXT TRANSLATIONS


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Déficit en carbamoyl-phosphate synthétase 1

Date index:2023-03-08 -

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