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pyruvate carboxylase deficiency disease/hypoxia

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ČlankiKliničnih preskušanjPatenti
2 rezultatov

Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.

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Prijava / prijava
The authors report 2 familial cases of neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in the liver. In both cases, disorders started immediately after birth and were characterized by major neurological symptoms, acute metabolic acidosis with hyperketonemia and

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.

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Prijava / prijava
A number of acquired conditions including infections, severe catabolic states, tissue anoxia, severe dehydration and poisoning can give rise to hyperlactacidaemia. All these causes should be ruled out before considering inborn errors of metabolism. Carefully collected samples are necessary if
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