Associated Papers
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
Dong R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
Daou M et al.
Molecular Genetics & Genomic Medicine, 2023
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
Diez-Fernandez C et al.
Journal of Medical Genetics, 2016
Leishmania donovani argininosuccinate synthase is an active enzyme associated with parasite pathogenesis.
Lakhal-Naouar I et al.
Plos Neglected Tropical Diseases, 2012
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
Wasant P et al.
The Southeast Asian Journal of Tropical Medicine and Public Health, 2005
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ et al.
Human Mutation, 2003
Select a paper to view details