Cargando…

Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature

Carbamoyl phosphate synthetase I (CPS1) deficiency (CPS1D), is a rare autosomal recessive disorder, characterized by life-threatening hyperammonemia. In this study, we presented the detailed clinical features and genetic analysis of two patients with neonatal-onset CPS1D carrying two compound hetero...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yan, Beibei, Wang, Chao, Zhang, Kaihui, Zhang, Haiyan, Gao, Min, Lv, Yuqiang, Li, Xiaoying, Liu, Yi, Gai, Zhongtao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713721/ https://www.ncbi.nlm.nih.gov/pubmed/31507628 http://dx.doi.org/10.3389/fgene.2019.00718

Ejemplares similares

Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report
por: Yang, Xiaoyan, et al.
Publicado: (2017)

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency
por: Bai, Ruimiao, et al.
Publicado: (2022)

Adaptation of the carbamoyl-phosphate synthetase enzyme in an extremophile fish
por: White, Lewis J., et al.
Publicado: (2020)

Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency
por: Fan, Lijuan, et al.
Publicado: (2019)

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases
por: Gao, Min, et al.
Publicado: (2023)

Transmission of a Novel Imprinting Center Deletion Associated With Prader–Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About
por: Zhang, Kaihui, et al.
Publicado: (2021)

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases
por: Dong, Rui, et al.
Publicado: (2022)

Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis
por: de Cima, Sergio, et al.
Publicado: (2015)

The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency
por: McGowan, Meaghan, et al.
Publicado: (2021)

Generation of carbamoyl phosphate synthetase 1 reporter cell lines for the assessment of ammonia metabolism
por: Wang, Yi, et al.
Publicado: (2017)

ERRATUM to “The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency”
Publicado: (2021)

Anesthesia management in living-donor liver transplantation in a patient with carbamoyl phosphate synthetase deficiency: a case report
por: Matsushita, Hiroki, et al.
Publicado: (2022)

Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review
por: Zhang, Yanqing, et al.
Publicado: (2023)

Plasmodium sporozoite phospholipid scramblase interacts with mammalian carbamoyl-phosphate synthetase 1 to infect hepatocytes
por: Cha, Sung-Jae, et al.
Publicado: (2021)

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
por: Choi, Rihwa, et al.
Publicado: (2017)

The T1405N Carbamoyl Phosphate Synthetase Polymorphism Does Not Affect Plasma Arginine Concentrations in Preterm Infants
por: Moonen, Rob M. J., et al.
Publicado: (2010)

Carbamoyl Phosphate Synthetase Subunit MoCpa2 Affects Development and Pathogenicity by Modulating Arginine Biosynthesis in Magnaporthe oryzae
por: Liu, Xinyu, et al.
Publicado: (2016)

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
por: Shen, Shanshan, et al.
Publicado: (2022)

Ammonia-lowering activities and carbamoyl phosphate synthetase 1 (Cps1) induction mechanism of a natural flavonoid
por: Nohara, Kazunari, et al.
Publicado: (2015)

Increased Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene
por: Janicki, Piotr K., et al.
Publicado: (2013)

A Carbamoyl Phosphate Synthetase II (CPSII) Deletion Mutant of Toxoplasma gondii Induces Partial Protective Immunity in Mice
por: Zhuo, Xunhui, et al.
Publicado: (2021)

Underexpression of Carbamoyl Phosphate Synthetase I as Independent Unfavorable Prognostic Factor in Intrahepatic Cholangiocarcinoma: A Potential Theranostic Biomarker
por: Ong, Khaa Hoo, et al.
Publicado: (2023)

Exome sequencing identified novel variants in three Chinese patients with 5,10-methenyltetrahydrofolate synthetase deficiency
por: Xu, Xiaoyan, et al.
Publicado: (2023)

Detection of Circulating Tumor Cells in Hepatocellular Carcinoma Using Antibodies against Asialoglycoprotein Receptor, Carbamoyl Phosphate Synthetase 1 and Pan-Cytokeratin
por: Li, Jun, et al.
Publicado: (2014)

Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer
por: Jiang, Zhen, et al.
Publicado: (2022)

N‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects
por: Yap, Sufin, et al.
Publicado: (2019)

Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations
por: Wang, Yanxin, et al.
Publicado: (2022)

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature
por: Wang, Dong, et al.
Publicado: (2021)

Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study
por: Moonen, Rob M., et al.
Publicado: (2016)

Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review
por: Wang, Shangyu, et al.
Publicado: (2023)

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency
por: Wang, Lan, et al.
Publicado: (2020)

Carbamoyl phosphate and its substitutes for the uracil synthesis in origins of life scenarios
por: Ter-Ovanessian, Louis M. P., et al.
Publicado: (2021)

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing
por: Wang, Dong, et al.
Publicado: (2019)

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review
por: Kido, Jun, et al.
Publicado: (2022)

DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature
por: Gao, Chunlai, et al.
Publicado: (2023)

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review
por: Liu, Fang, et al.
Publicado: (2023)

A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression
por: Zhang, Kaihui, et al.
Publicado: (2022)

SINO Syndrome Causative KIDINS220/ARMS Gene Regulates Adipocyte Differentiation
por: Zhang, Kaihui, et al.
Publicado: (2021)

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population
por: Wang, Xin, et al.
Publicado: (2021)

Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome
por: Zhang, Kaihui, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_ik4uvhfsi8a8jnn63k9g0agioq