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Indian J Pediatr ; 2006 Feb; 73(2): 163-5
Artículo en Inglés | IMSEAR | ID: sea-83314

RESUMEN

A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of raised serum and urine succinylacetone and a deficient activity of fumaryl acetoacetate hydroxylase enzyme. Prenatal diagnosis of hereditary tyrosinemia was performed in a subsequent pregnancy in this family from India.


Asunto(s)
Consanguinidad , Femenino , Asesoramiento Genético , Humanos , Lactante , Masculino , Embarazo , Diagnóstico Prenatal , Tirosinemias/diagnóstico
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