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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Sep 15, 2024. (Total: 231458Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Citrullinemia Type I[original query]
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.
BMC gastroenterology 2012 12 (1): 141.
Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurd
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
PloS one 2013 8 (9): e74544.
Song Yuan-Zong, Zhang Zhan-Hui, Lin Wei-Xia, Zhao Xin-Jing, Deng Mei, Ma Yan-Li, Guo Li, Chen Feng-Ping, Long Xiao-Ling, He Xiang-Ling, Sunada Yoshihide, Soneda Shun, Nakatomi Akiko, Dateki Sumito, Ngu Lock-Hock, Kobayashi Keiko, Saheki Takeyo
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
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
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.
Frontiers in genetics 2021 8 12 631688.
Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R
[Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment].
Postepy biochemii 2021 8 67 (2): 157-162.
Lipi?ski Patryk, Ciara El?bieta, Ehmke Vel Emczy?ska-Seliga Ewa, Jankowska Ire
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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