1990
DOI: 10.1007/bf01799696
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Propionic acidaemia: two cases in chile

Abstract: CASE REPORTPropionic aeidaemia: two cases in Chile E. Raimann, V. Cornejo, C. G. Perates and M. Colombo Case 1 F.D.S., male, birth weight 2980g. At the second day of life he presented hypoglycaemia and 24 h later developed metabolic acidosis. At the 6th day of life he had vomiting, hypotonia and hyperreflexia that progressed to seizures and coma. Blood analyses showed metabolic acidosis and hyperammonaemia. The diagnosis of propionic acidaemia was confirmed by the study of organic acids in urine by gas chro… Show more

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