相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases
Roland Posset et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Haberle et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report
Katsuyuki Yokoi et al.
BMC MEDICAL GENETICS (2018)
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years
Peter Burgard et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
Ljubica Caldovic et al.
JOURNAL OF GENETICS AND GENOMICS (2015)
The incidence of urea cycle disorders
Marshall L. Summar et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Current concepts in the pathogenesis of urea cycle disorders
Olivier Braissant
MOLECULAR GENETICS AND METABOLISM (2010)
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH
Oleg A. Shchelochkov et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Problems in the management of urea cycle disorders
B Wilcken
MOLECULAR GENETICS AND METABOLISM (2004)