Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Ornithine Transcarbamylase Deficiency[original query] |
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Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. Journal of genetics and genomics = Yi chuan xue bao 2015 May 42 (5): 181-94. Caldovic Ljubica, Abdikarim Iman, Narain Sahas, Tuchman Mendel, Morizono Hiro |
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings. Orphanet journal of rare diseases 2019 Aug 14 (1): 203. Silvera-Ruiz Silene M, Arranz José A, Häberle Johannes, Angaroni Celia J, Bezard Miriam, Guelbert Norberto, Becerra Adriana, Peralta Fernanda, de Kremer Raquel Dodelson, Laróvere Laura |
[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 2 37 (2): 106-109. Liu Ning, Feng Yin, Jiang Miao, Kong Xiangdo |
Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG advances 2023 8 4 (4): 100226. Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Go |
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2025 1 42 (1): 26-33. Wei Zhou, Huizhong Li, Li Yang, Fang Shao, Maosheng |
- Page last reviewed:Feb 1, 2024
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