Records 1 - 5 (of 5 Records)
|Query Trace: Citrullinemia and ASS1[original query]|
| Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
JIMD reports 2012 6 27-9.
Laróvere Laura E, Ruiz Silene M Silvera, Angaroni Celia J, de Kremer Raquel Dodels
| [Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 Oct 34 (5): 676-679.
Lin Yiming, Yu Ke, Li Lufeng, Zheng Zhenzhu, Lin Weihua, Fu Qingl
| Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Genetics and molecular biology 2020 7 43 (3): 20190298.
Randon Dévora N, Sperb-Ludwig Fernanda, Vianna Fernanda S L, Becker Ana P P, Vargas Carmen R, Sitta Angela, Sant'Ana Alexia N, Schwartz Ida V D, Bitencourt Fernanda H
| Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations.
JIMD reports 2022 4 63 (3): 231-239.
Moarefian Shirin, Zamani Mahdi, Rahmanifar Ali, Behnam Babak, Zaman Tali
| [Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 10 40 (11): 1345-1349.
Rui Dong, Kaihui Zhang, Hui Guo, Guangye Zhang, Yuqiang Lyu, Min Gao, Zhongtao Gai, Yi L
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- Page last updated:Dec 01, 2023
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