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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Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

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stofwisselingsstoornissen van aminozuren met vertakte keten en van vetzuren

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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 histidine metabolism disorders of histidine metabolism metabolic disorder tryptophan metabolism disorders histidine metabolism

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Date index: 2022-08-14