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Adult-Onset Ornithine Transcarbamylase (OTC) Deficiency Unmasked by the Atkins’ Diet
Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine ...
Carlo Rodolfo Largiadèr +2 more
exaly +2 more sources
Ornithine Transcarbamylase Deficiency Diagnosed in Pregnancy
Urea cycle enzymes deficiencies are rare metabolic disorders. Ornithine transcarbamylase (OTC) deficiency is the most common type. The syndrome results from a deficiency of the mitochondrial enzyme OTC which catalyses the conversion of ornithine and ...
Özlem Çelik, Özer Açbay, Ahmet Aydin
exaly +2 more sources
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Reye's Syndrome Due to a Novel Protein-Tolerant Variant of Ornithine-Transcarbamylase Deficiency.
Lancet, The, 1974M Michael Thaler
exaly
Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency
Molecular Therapy, 2018Debashish Roy +2 more
exaly
Prenatal Exclusion of Ornithine Transcarbamylase Deficiency by Direct Gene Analysis.
Lancet, The, 1985Kay Davies, Julie M Old, Peter Pearson
exaly
Ornithine Transcarbamylase Deficiency and Pancreatitis
Journal of Pediatrics, 2001Gerard Berry
exaly

