UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 61

Sortiert nach

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene

Biochimica et biophysica acta, 2016-04, Vol.1862 (4), p.754-762

2016

Volltextzugriff (PDF)

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.216-222

2017

Volltextzugriff (PDF)

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.310-316

2015

Volltextzugriff (PDF)

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100709, Article 100709

2021

Volltextzugriff (PDF)

Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status

PloS one, 2013-05, Vol.8 (5), p.e63497-e63497

2013

Volltextzugriff (PDF)

Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu

British journal of dermatology (1951), 2022-06, Vol.186 (6), p.988-996

2022

Volltextzugriff (PDF)

CIAO1 and MMS19 de fi ciency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Genetics in medicine, 2024-06, Vol.26 (6)

2024

Volltextzugriff (PDF)

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Genetics in medicine, 2024-06, Vol.26 (6), p.101104, Article 101104

2024

Volltextzugriff (PDF)

The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters

Biochimica et biophysica acta. Molecular basis of disease, 2018-03, Vol.1864 (3), p.942-951

2018

Volltextzugriff (PDF)

Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2736-2742

2017

Volltextzugriff (PDF)

Cholestasis is associated with hepatic microvascular dysfunction and aberrant energy metabolism before and during ischemia-reperfusion

Antioxidants & redox signaling, 2012-10, Vol.17 (8), p.1109

2012

Volltextzugriff (PDF)

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.801-812

2014

Volltextzugriff (PDF)

6-mercaptopurine inhibits atherosclerosis in apolipoprotein e3-leiden transgenic mice through atheroprotective actions on monocytes and macrophages

Arteriosclerosis, thrombosis, and vascular biology, 2010-08, Vol.30 (8), p.1591

2010

Volltextzugriff (PDF)

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.1023

2014

Volltextzugriff (PDF)

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.1023-1023

2014

Volltextzugriff (PDF)

Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.801

2014

Volltextzugriff (PDF)

Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Journal of inherited metabolic disease, 2014, Vol.37 (5), p.801

2014

Volltextzugriff (PDF)

Hydrogen Sulfide Donor NaHS Reduces Organ Injury in a Rat Model of Pneumococcal Pneumosepsis, Associated with Improved Bio-Energetic Status. e63497

PloS one, 2013-05, Vol.8 (5)

2013

Volltextzugriff (PDF)

Mycophenolate mofetil inhibits T‐cell proliferation in kidney transplant recipients without lowering intracellular dGTP and GTP

Transplant international, 2008-11, Vol.21 (11), p.1066-1071

2008

Volltextzugriff (PDF)

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

Molecular genetics and metabolism reports, 2020, Vol.25, p.100677-100677

2020

Volltextzugriff (PDF)

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

Molecular genetics and metabolism reports, 2021, Vol.26, p.100709-100709

2021

Volltextzugriff (PDF)

Logic, Language, and Computation: 9th International Tbilisi Symposium on Logic, Language, and Computation, TbiLLC 2011, Kutaisi, Georgia, September 26-30, 2011, Revised Selected Papers

1, 2013

Volltextzugriff (PDF)

Inquisitive Semantics: A New Notion of Meaning

Language and linguistics compass, 2013-09, Vol.7 (9), p.459-476

2013

Volltextzugriff (PDF)

On the semantics and logic of declaratives and interrogatives

Synthese (Dordrecht), 2015-06, Vol.192 (6), p.1689-1728

2015

Volltextzugriff (PDF)

Inquisitive Semantics

1, 2018

Volltextzugriff (PDF)

1 – 25 von 61

Suche als RSS-Feed

Aktive Filter

ThemaArts Syndrome

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(38)
Mit Volltextzugriff
(58)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(22)
Life Sciences & Biomedicine
(19)
Humans
(16)
Biological And Medical Sciences
(9)
Biochemistry & Molecular Biology
(8)
Female
(8)
Male
(8)
Animals
(7)
Genetics & Heredity
(6)
Child
(5)
Endocrinology & Metabolism
(5)
Fundamental And Applied Biological Sciences. Psychology
(5)
Middle Aged
(5)
Biophysics
(4)
Erythrocyte Membrane - Metabolism
(4)
Lipid Peroxidation
(4)
Medical Sciences
(4)
Parinaric Acid
(4)
Adult
(3)
Biochemistry
(3)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status

Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu

CIAO1 and MMS19 de fi ciency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters

Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

Cholestasis is associated with hepatic microvascular dysfunction and aberrant energy metabolism before and during ischemia-reperfusion

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

6-mercaptopurine inhibits atherosclerosis in apolipoprotein e3-leiden transgenic mice through atheroprotective actions on monocytes and macrophages

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Hydrogen Sulfide Donor NaHS Reduces Organ Injury in a Rat Model of Pneumococcal Pneumosepsis, Associated with Improved Bio-Energetic Status. e63497

Mycophenolate mofetil inhibits T‐cell proliferation in kidney transplant recipients without lowering intracellular dGTP and GTP

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

Logic, Language, and Computation: 9th International Tbilisi Symposium on Logic, Language, and Computation, TbiLLC 2011, Kutaisi, Georgia, September 26-30, 2011, Revised Selected Papers

Inquisitive Semantics: A New Notion of Meaning

On the semantics and logic of declaratives and interrogatives

Inquisitive Semantics

Aktive Filter

Suchergebnisse filtern