Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency
Author:
Funder
Intellectual and Development Disorders Research Center (IDDRC)
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference20 articles.
1. Urea cycle disorders: diagnosis, pathophysiology, and therapy;Brusilow;Adv. Pediatr.,1996
2. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency;Batshaw;N. Engl. J. Med.,1980
3. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency;Gyato;Ann. Neurol.,2004
4. Long-term treatment of girls with ornithine transcarbamylase deficiency;Maestri;N. Engl. J. Med.,1996
5. Neurological outcome of patients with ornithine carbamoyltransferase deficiency;Nicolaides;Arch. Dis. Child.,2002
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3. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency;Children;2023-08-09
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