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LATE ONSET ARGININE SUCCINATE LYASE DEFICIENCY WITH NORMAL PLASMA AMMONIA LEVEL

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dc.contributor.authorYilmaz, Cahide
dc.contributor.authorDogan, Murat
dc.contributor.authorCesur, Yaşar
dc.contributor.authorCaksen, Huseyin
dc.contributor.authorYuca, Sevil Ari
dc.contributor.authorAtas, Bulent
dc.contributor.authorTuncer, Oguz
dc.contributor.institutionauthorCESUR, YAŞAR
dc.date.accessioned2020-10-22T15:57:29Z
dc.date.available2020-10-22T15:57:29Z
dc.date.issued2011-01-01T00:00:00Z
dc.description.abstractArginine succinate lyase (ASL) deficiency is one of the most common cause of urea cycle defect and shows all characteristics of this disorders. This disease is presented with hyperammonemia, abnormally kinky hair and mental retardation. 6-years-old-girl was brought to our hospital because of skin eruption, weight loses, abdominal pain, having no appetite, polydipsia and pollakiuria. In physical examination, especially occipital balding, mental retardation, hepatomegaly, ataxia and articulation defect were found. She, who was diagnosed as ASL deficiency after the laboratory examinations, had normal blood ammonia levels. Finally in this study, we emphasize; ASL deficiency must be thought when a child has mental retardation and cerebellar ataxia, even if normal ammonia levels.
dc.identifier.citationYilmaz C., Dogan M., Cesur Y., Caksen H., Yuca S. A. , Atas B., Tuncer O., -LATE ONSET ARGININE SUCCINATE LYASE DEFICIENCY WITH NORMAL PLASMA AMMONIA LEVEL-, NOBEL MEDICUS, cilt.7, ss.115-118, 2011
dc.identifier.scopus79956365339
dc.identifier.urihttp://hdl.handle.net/20.500.12645/23731
dc.identifier.wosWOS:000290003500022
dc.titleLATE ONSET ARGININE SUCCINATE LYASE DEFICIENCY WITH NORMAL PLASMA AMMONIA LEVEL
dc.typeArticle
dspace.entity.typePublication
local.avesis.id55bb60c7-ec83-48c1-abb7-8402165930b3
local.publication.goal08 - İnsana Yakışır İş ve Ekonomik Büyüme
local.publication.isinternational1
relation.isAuthorOfPublicationddd881a5-c7cb-41e5-b4e1-0693a98a0d29
relation.isAuthorOfPublication.latestForDiscoveryddd881a5-c7cb-41e5-b4e1-0693a98a0d29
relation.isGoalOfPublication42dc4679-bf07-41ff-b435-3ecfdcf74555
relation.isGoalOfPublication.latestForDiscovery42dc4679-bf07-41ff-b435-3ecfdcf74555
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