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, Yasar
dc.contributor.authorCaksen, Huseyin
dc.contributor.authorYuca, Sevil Ari
dc.contributor.authorAtas, Bulent
dc.contributor.authorTuncer, Oguz
dc.date.accessioned2024-09-18T21:00:29Z
dc.date.available2024-09-18T21:00:29Z
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.startpage115en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12483/12719
dc.identifier.volume7en_US
dc.identifier.wosWOS:000290003500022en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isotren_US
dc.publisherNobel Ilacen_US
dc.relation.ispartofNobel Medicusen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectUrea cycle defectsen_US
dc.subjectarginine succinate lyase deficiencyen_US
dc.subjectnormal blood ammonia levelsen_US
dc.subjectmental retardationen_US
dc.subjectataxiaen_US
dc.titleLATE ONSET ARGININE SUCCINATE LYASE DEFICIENCY WITH NORMAL PLASMA AMMONIA LEVELen_US
dc.typeArticleen_US

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