Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

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Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.

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P2860

Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

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2017 nî lūn-bûn

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2017年の論文

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Clinical and mutation analysis ...... e transcarbamylase deficiency.

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Clinical and mutation analysis ...... e transcarbamylase deficiency.

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Clinical and mutation analysis ...... e transcarbamylase deficiency.

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Clinical and mutation analysis ...... e transcarbamylase deficiency.

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H Hu

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H Mei

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W Zhang

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X Li

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X Su

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Y Cai

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Y Lin

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Y Shao

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P2860

1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

A longitudinal study of urea cycle disorders.

Ornithine transcarbamylase deficiency: a urea cycle defect.

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

Liver Transplantation for Urea Cycle Disorders: Analysis of the United Network for Organ Sharing Database.

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scholarly article

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10.1111/CGE.13004

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Li Liu

M Jiang

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2017-03-07T00:00:00Z

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28266016

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Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

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P2860

P2860

Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

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P2093

P2860

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