Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.
Chen VL et al.
Nature Communications, 2021
Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
Fan L et al.
Journal of Clinical Laboratory Analysis, 2020
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
Zhang G et al.
Journal of Clinical Laboratory Analysis, 2018
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
Diez-Fernandez C et al.
Human Mutation, 2013
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Häberle J et al.
Human Mutation, 2011
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
Martínez AI et al.
Molecular Genetics and Metabolism, 2010
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
Pekkala S et al.
Human Mutation, 2010
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Kurokawa K et al.
Journal of Human Genetics, 2007
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.
Funghini S et al.
Journal of Inherited Metabolic Disease, 2005
Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood.
Endo F et al.
The Journal of Nutrition, 2004
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Funghini S et al.
Human Mutation, 2003
Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
Häberle J et al.
Human Mutation, 2003
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Aoshima T et al.
Human Heredity, 2001
[Molecular basis of urea cycle disorders].
Matsuda I et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1993