Clinical and genetic analysis of five Chinese patients with urea cycle disorders
Author:
Affiliation:
1. Neonatal Screening CenterQuanzhou Women and Children’s Hospital Quanzhou China
2. Hangzhou Genuine Clinical Laboratory Co. Ltd Hangzhou China
Funder
Quanzhou Science and Technology Plan Project
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1301
Reference33 articles.
1. Mutations and Polymorphisms in the HumanArgininosuccinate Lyase(ASL) Gene
2. Expanding the phenotype in argininosuccinic aciduria: need for new therapies
3. Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
4. Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia
5. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency
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1. Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises;Pediatric Neurology;2024-10
2. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;2023-11-24
3. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11
4. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients;BioMed Research International;2020-08-31
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