Late onset arginine succinate lyase deficiency with normal plasma ammonia level

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dc.authorscopusid8421729700
dc.authorscopusid14526773500
dc.authorscopusid6603814316
dc.authorscopusid7101974609
dc.authorscopusid6506372343
dc.authorscopusid6603968029
dc.authorscopusid56186063400
dc.contributor.authorYilmaz, Cahide
dc.contributor.authorDo?an, Murat
dc.contributor.authorCesur, Yaşar
dc.contributor.authorÇaksen, Hüseyin
dc.contributor.authorYuca, Sevil Ari
dc.contributor.authorAtaş, Bülent
dc.contributor.authorTuncer, O?uz
dc.date.accessioned2024-09-19T15:43:38Z
dc.date.available2024-09-19T15:43:38Z
dc.date.issued2011
dc.departmentHatay Mustafa Kemal Üniversitesien_US
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.en_US
dc.identifier.endpage118en_US
dc.identifier.issn1305-2381
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-79956365339en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage115en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12483/14467
dc.identifier.volume7en_US
dc.indekslendigikaynakScopusen_US
dc.language.isotren_US
dc.relation.ispartofNobel Medicusen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectArginine succinate lyase deficiencyen_US
dc.subjectAtaxiaen_US
dc.subjectMental retardationen_US
dc.subjectNormal blood ammonia levelsen_US
dc.subjectUrea cycle defectsen_US
dc.titleLate onset arginine succinate lyase deficiency with normal plasma ammonia levelen_US
dc.title.alternativeNormal plazma amonyak düzeyi ile seyreden geç başlangiçli argininosüksinat liyaz eksikli?ien_US
dc.typeArticleen_US

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