Cargando…

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole ex...

Descripción completa

Detalles Bibliográficos
Autores principales:	Choi, Rihwa, Park, Hyung-Doo, Yang, Mina, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Song, Junghan, Chang, Yun Sil, Park, Won Soon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2017
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107619/ https://www.ncbi.nlm.nih.gov/pubmed/27834067 http://dx.doi.org/10.3343/alm.2017.37.1.58

Ejemplares similares

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

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)

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)

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

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)

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)

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

Carbamoyl Phosphate Synthase Subunit CgCPS1 Is Necessary for Virulence and to Regulate Stress Tolerance in Colletotrichum gloeosporioides
por: Mushtaq, Aamar, et al.
Publicado: (2021)

Carbamoyl Phosphate Synthase Subunit CgCPS1 Is Necessary for Virulence and to Regulate Stress Tolerance in Colletotrichum gloeosporioides
por: Mushtaq, Aamar, et al.
Publicado: (2021)

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

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

Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature
por: Yan, Beibei, et al.
Publicado: (2019)

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned
por: Lin, Hsin-Ti, et al.
Publicado: (2022)

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)

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)

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)

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)

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

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis
por: Hwang, Narae, et al.
Publicado: (2021)

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)

Run 575, 577 and 580, Rings 1 and 2, 26 GeV/c
por: Barlow, A K
Publicado: (1975)

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity
por: Choi, Rihwa, et al.
Publicado: (2014)

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)

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

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

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing
por: Isler, Jasmine, et al.
Publicado: (2020)

C.P.S. beam emittances
por: Barbalat, O
Publicado: (1971)

C.P.S. Vertical Aperture
por: Hereward, HG
Publicado: (1962)

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype
por: Park, Hyung-Doo, et al.
Publicado: (2009)

Photosynthesis-Inhibiting Activity of 1-[(2-Chlorophenyl)carbamoyl]- and 1-[(2-Nitrophenyl)carbamoyl]naphthalen-2-yl Alkylcarbamates †
por: Gonec, Tomas, et al.
Publicado: (2017)

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
por: Choi, Rihwa, et al.
Publicado: (2016)

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
por: Hong, Geehay, et al.
Publicado: (2015)

The acceleration of polarized protons in the C.P.S.
por: Lapostolle, P, et al.
Publicado: (1964)

Some trapping computations for the C.P.S.
por: Hereward, H G
Publicado: (1959)

C.P.S. measurement and running-in programme
por: Hine, M G N
Publicado: (1960)

Acid-Promoted Direct C–H Carbamoylation at the C-3 Position of Quinoxalin-2(1H)-ones with Isocyanide in Water
por: Li, Yong, et al.
Publicado: (2022)

Long noncoding RNA SATB1-AS1 contributes to the chemotherapy resistance through the microRNA-580/ 2’-5’-oligoadenylate synthetase 2 axis in acute myeloid leukemia
por: Zhou, Hong, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_rvscer5ht4qstda979ivp6cqvl