UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 41

Sortiert nach

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

Human mutation, 2017-05, Vol.38 (5), p.471-484

2017

Link zum Volltext

Verfügbarkeit prüfen

Response to Baertling et al

Genetics in medicine, 2020-03, Vol.22 (3), p.656-656

2020

Link zum Volltext

Verfügbarkeit prüfen

Recovery of enzyme activity in biotinidase deficient individuals during early childhood

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.605-620

2022

Link zum Volltext

Verfügbarkeit prüfen

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

Human mutation, 2018-08, Vol.39 (8), p.1029-1050

2018

Link zum Volltext

Verfügbarkeit prüfen

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

Journal of medical genetics, 2016-10, Vol.53 (10), p.710-719

2016

Link zum Volltext

Verfügbarkeit prüfen

Expression and function of the urea cycle in widely-used hepatic cellular models

Journal of inherited metabolic disease, 2024-01

2024

Link zum Volltext

Verfügbarkeit prüfen

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1044-1053

2019

Link zum Volltext

Verfügbarkeit prüfen

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

JIMD reports, 2020-03, Vol.52 (1), p.28-34

2020

Link zum Volltext

Verfügbarkeit prüfen

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

Biology, 2016-10, Vol.5 (4), p.40

2016

Link zum Volltext

Verfügbarkeit prüfen

Mutations in the Human Argininosuccinate Synthetase ( ASS1 ) Gene, Impact on Patients, Common Changes, and Structural Considerations: HUMAN MUTATION

Human mutation, 2017-05, Vol.38 (5), p.471-484

2017

Link zum Volltext

Verfügbarkeit prüfen

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Scientific reports, 2018-10, Vol.8 (1), p.15436-7, Article 15436

2018

Link zum Volltext

Verfügbarkeit prüfen

Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene

Human mutation, 2014-01, Vol.35 (1), p.27-35

2014

Link zum Volltext

Verfügbarkeit prüfen

Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene

Human mutation, 2021-09, Vol.42 (12), p.1624-1636

2021

Link zum Volltext

Verfügbarkeit prüfen

Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

International journal of neonatal screening, 2015-06, Vol.1 (1), p.27-35

2015

Link zum Volltext

Verfügbarkeit prüfen

ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON MALIGNANCIES

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.284-285

2022

Link zum Volltext

Verfügbarkeit prüfen

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders

Biochimie, 2021-04, Vol.183, p.89-99

2021

Link zum Volltext

Verfügbarkeit prüfen

Cover Image, Volume 39, Issue 8

Human mutation, 2018-08, Vol.39 (8), p.i-i

2018

Link zum Volltext

Verfügbarkeit prüfen

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

Nature communications, 2022-09, Vol.13 (1), p.5212-14, Article 5212

2022

Link zum Volltext

Verfügbarkeit prüfen

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Orphanet journal of rare diseases, 2018-10, Vol.13 (1), p.174-174, Article 174

2018

Link zum Volltext

Verfügbarkeit prüfen

Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

Hepatology (Baltimore, Md.), 2022-09, Vol.76 (3), p.646-659

2022

Link zum Volltext

Verfügbarkeit prüfen

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

Molecular autism, 2014-08, Vol.5 (1), p.43-43, Article 43

2014

Link zum Volltext

Verfügbarkeit prüfen

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation

Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.438-444

2015

Link zum Volltext

Verfügbarkeit prüfen

Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene

Human mutation, 2021-12, Vol.42 (12), p.1624-1636

2021

Link zum Volltext

Verfügbarkeit prüfen

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

Molecular genetics and metabolism, 2021-06, Vol.133 (2), p.157-181

2021

Link zum Volltext

Verfügbarkeit prüfen

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

Human mutation, 2016-07, Vol.37 (7), p.679-694

2016

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 41

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(40)
Mit Volltextzugriff
(40)

Publikationsform

Artikel
(41)

Sprache

Englisch
(41)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Human Mutation
(8)
Journal Of Inherited Metabolic Disease
(6)
Molecular Genetics And Metabolism
(4)
Genetics In Medicine
(2)
Plos One
(2)
Biochemia Medica
(1)
Biochimie
(1)
Biology
(1)
Cancer Communications
(1)
Hepatology
(1)

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

Response to Baertling et al

Recovery of enzyme activity in biotinidase deficient individuals during early childhood

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

Expression and function of the urea cycle in widely-used hepatic cellular models

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

Mutations in the Human Argininosuccinate Synthetase ( ASS1 ) Gene, Impact on Patients, Common Changes, and Structural Considerations: HUMAN MUTATION

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene

Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene

Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON MALIGNANCIES

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders

Cover Image, Volume 39, Issue 8

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation

Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

Suchergebnisse filtern