{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T16:57:18Z","timestamp":1648659438406},"reference-count":20,"publisher":"FapUNIFESP (SciELO)","issue":"3B","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[1998,9]]},"abstract":"<jats:p>Estudamos seis pacientes com acid\u00faria glut\u00e1rica tipo I, em quatro fam\u00edlias. Observamos varia\u00e7\u00f5es intensas na apresenta\u00e7\u00e3o cl\u00ednica, mesmo entre elementos da mesma fam\u00edlia. Tr\u00eas pacientes evoluiram sem altera\u00e7\u00f5es at\u00e9 o in\u00edcio das anomalias neurol\u00f3gicas, que se manifestaram como encefalite-s\u00edmile, no primeiro ano de vida. Uma crian\u00e7a apresentou atraso precoce do desenvolvimento, sem epis\u00f3dios agudos de descompensa\u00e7\u00e3o. Dois pacientes n\u00e3o t\u00eam altera\u00e7\u00e3o cognitiva; um deles apresenta leve tremor associado a quadro coreoatet\u00f3ide desde o primeiro ano de vida, enquanto o outro teve apenas duas crises convulsivas afebris quando lactente. Tr\u00eas crian\u00e7as apresentam distonia como sequela, n\u00e3o sendo capazes de sentar ou firmar a cabe\u00e7a. Os seis pacientes apresentam macrocrania e a neles tomografia computatorizada de cr\u00e2nio demonstra aumento dos espa\u00e7os liqu\u00f3ricos em regi\u00f5es fronto-temporais. O estudo dos \u00e1cidos org\u00e2nicos urin\u00e1rios dos pacientes demonstra eleva\u00e7\u00e3o dos n\u00edveis do \u00e1cido glut\u00e1rico.<\/jats:p>","DOI":"10.1590\/s0004-282x1998000400005","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T10:22:47Z","timestamp":1113560567000},"page":"545-552","source":"Crossref","is-referenced-by-count":0,"title":["Acid\u00faria glut\u00e1rica tipo 1: variabilidade fenot\u00edpica. 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