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The most notable example is phenylketonuria where the neonatal diagnosis and the treatment is based in a restricted phenylalanine diet revert the accumulation of this substrate and prevent the neurological damage that the aminoacid cause if the disease is not treated in the neonatal period.
Diagnóstico de los errores innatos del metabolismo
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Orphanet Journal of Rare Diseases. Considering the abnormal metabolic pathway there are seven nutritional treatments to permit recovering the normal metabolic balance. Creating downloadable prezi, be patient. Do you really want to delete this prezi? Learn more about Amazon Prime.
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The treatment consists in giving cofactors or vitamins to bind the metabolite into a non-toxic and readily excreted conjugate. Do you really want to delete this prezi?
Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal
Pronounced reversible hyperammonemic encephalopathy associated with combined valproate—topiramate therapy in a 7-year-old girl. Alexa Actionable Analytics for the Web.
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N-Carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. See more popular or the latest prezis.
Errores innatos del metabolismo
Carglumic acid for treatment of valproic acid-induced hyperammonaemia jetabolismo a paediatric patient. Please log in to add your comment. A firewall is blocking access to Prezi content. Delete comment or cancel. Delete comment or cancel. Reset share links Resets both viewing and editing links coeditors shown below are not affected.
The primary language on the Web site is Spanish. Zoom de los exones C. Add a personal note: Se han descrito EIM Afectan entre 1: Constrain to simple back and forward steps.
Instituto de Errores Innatos del Metabolismo - NORD (National Organization for Rare Disorders)
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Present to your audience. Check out this article to learn more or contact your errorfs administrator. Therapeutics and Clinical Risk Management.