Citrullinemia Type I
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Last Posted: Nov 07, 2023
- [Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
Rui Dong, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 0 (11) 1345-1349 - 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.
Randon Dévora N, et al. Genetics and molecular biology 2020 0 (3) 20190298 - [Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment].
Lipi?ski Patryk, et al. Postepy biochemii 2021 0 (2) 157-162 - Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan Jianqiang, et al. Frontiers in genetics 2021 0 631688 - Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations.
Moarefian Shirin, et al. JIMD reports 2022 0 (3) 231-239 - Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Shibata Naoaki et al. Molecular genetics and metabolism reports 2018 Sep 165-10 - High incidence of maternal vitamin B 12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.
Gramer Gwendolyn et al. World journal of pediatrics : WJP 2018 Jun - SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Song Yuan-Zong, et al. PloS one 2013 0 (9) e74544 - Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
Laróvere Laura E, et al. JIMD reports 2012 0 27-9 - Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.
Treepongkaruna Suporn, et al. BMC gastroenterology 2012 0 (1) 141
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
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