L-2-hydroxiglutaric aciduria: Three case reports
L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia, extrapyramidal signs and seizures. Diagnosis is made by cranial magnetic resonance imaging and urine organic acid analysis. In this report, we pr...
Main Authors: | Faruk incecik, Neslihan Mungan, Ozlem Mihriban Herguner, Deniz Kor, Berna seker, Sakir Altunbasak |
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Format: | Article |
Language: | English |
Published: |
Cukurova University
2014-08-01
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Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
Subjects: | |
Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=150466 |
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