CAUSAS DE HIPERAMONEMIA PDF

esponjosa no sistema nervoso central causada pela hiperamonemia. O proteinograma é um exame indicado para a determinação da causa do edema. 31 jul. Palavras-chave: Erros inatos do metabolismo; Sintomas clínicos; . casos suspeitos e confirmados de EIM, foi a hiperamonemia, seguida pela. Os sintomas podem ser desencadeados por alterações do estado catabólico . Consideramos hiperamonemia o valor de amônia plasmática maior que

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Tratamento de erros causax do metabolismo. Este artigo focaliza temas que nos parecem ser do maior interesse para o pediatra: Inborn errors of metabolism around time of birth. Methylmalonic and propionic acidurias: J Inherit Metab Dis. The use of amino acid supplements in inherited metabolic disease.

Pathophysiology and clinical features of Wilson disease. Protocolo brasileiro de dietas: A clinical guide to inherited metabolic diseases. Cambridge University Press; Methylmalonic and propionic acidaemias: Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inform hiperamoneima of metabolism.

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Zschocke J, Hoffmann GF.

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Manual of metabolic paediatrics. Molecular biology of the cell.

Lehninger principles of biochemistry. Smith’s recognizable patterns of human malformation.

Treatment of inborn errors of metabolism

National Institutes of Health. Kacher Y, Futerman AH. Genetic diseases of sphingolipid metabolism: N Engl J Med.

New therapeutic options for lysosomal storage disorders: Intratechal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet. Como citar este artigo: Treatment of inborn errors of metabolism.

J Pediatr Rio J. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

Hiperamonemia by Daniel Navais on Prezi

Services on Demand Journal. Tratamento em longo prazo: Tratamento a longo prazo: Carlos Gomes, cj.

How to cite this article.