Inherited disorder characterised by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonaemia, metabolic

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hyperammoniëmische encefalopathie door carboanhydrase VA-deficiëntie

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Galactose metabolism disorder

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stoornis van galatosemetabolisme

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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

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carbamoylfosfaatsynthetase 1-deficiëntie

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Anderen hebben gezocht naar : disorder of glycoprotein metabolism disorders of glycoprotein metabolism galactose metabolism disorder other disorders of glycoprotein metabolism metabolic disorder disorders glycoprotein metabolism

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Date index: 2022-08-12