Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
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Predicting Severity of Disease-Causing Variants.Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature.Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature.Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.Maternal Genetic Disorders in Pregnancy.Acute pediatric hyperammonemia: current diagnosis and management strategiesLate-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutationMutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the Gene
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P2860
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
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2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2015 թվականի մայիսին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
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Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
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Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
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Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
@ast
Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
@en
Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
@nl
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Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
@ast
Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
@en
Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
@nl
P2093
P2860
P3181
P1476
Genotype-Phenotype Correlation ...... Deficiency: A Mutation Update
@en
P2093
Hiroki Morizono
Iman Abdikarim
Ljubica Caldovic
Mendel Tuchman
Sahas Narain
P2860
P304
P3181
P356
10.1016/J.JGG.2015.04.003
P407
P577
2015-05-20T00:00:00Z