UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Histone methyltransferase Smyd1 regulates mitochondrial energetics in the heart

Proceedings of the National Academy of Sciences - PNAS, 2018-08, Vol.115 (33), p.E7871-E7880

2018

Volltextzugriff (PDF)

Metabolic remodeling in moderate synchronous versus dyssynchronous pacing-induced heart failure: integrated metabolomics and proteomics study

PloS one, 2015-03, Vol.10 (3), p.e0118974-e0118974

2015

Volltextzugriff (PDF)

Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing

Critical reviews in clinical laboratory sciences, 2023-08, Vol.60 (5), p.366-381

2023

Volltextzugriff (PDF)

Retrospective comparison of results for simultaneous orders for LDL particle count, apolipoprotein B, and LDL-C

Clinica chimica acta, 2021-07, Vol.518, p.38-42

2021

Volltextzugriff (PDF)

Cystic fibrosis and fat malabsorption: Pathophysiology of the cystic fibrosis gastrointestinal tract and the impact of highly effective CFTR modulator therapy

Nutrition in clinical practice, 2024-04, Vol.39 (S1), p.S57-S77

2024

Volltextzugriff (PDF)

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100857, Article 100857

2022

Volltextzugriff (PDF)

P367: The impact of modulator therapies on lipids and fatty acids profiles in children and adolescents with cystic fibrosis

Genetics in Medicine Open, 2023, Vol.1 (1), p.100395, Article 100395

2023

Volltextzugriff (PDF)

P252: Development of a scoring system to define lysosomal diseases

Genetics in Medicine Open, 2024, Vol.2, p.101148, Article 101148

2024

Volltextzugriff (PDF)

P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

Genetics in Medicine Open, 2024, Vol.2, p.100897, Article 100897

2024

Volltextzugriff (PDF)

NMR Insights into Lipoprotein Particles: analyzing correlations with traditional lipid measurements

American journal of clinical pathology, 2024-10, Vol.162 (Supplement_1), p.S179-S180

2024

Volltextzugriff (PDF)

O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

Genetics in Medicine Open, 2023, Vol.1 (1), p.100005, Article 100005

2023

Volltextzugriff (PDF)

The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy

Frontiers in pediatrics, 2019-08, Vol.7, p.337-337

2019

Volltextzugriff (PDF)

An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency

Clinical chemistry (Baltimore, Md.), 2021-09, Vol.67 (9), p.1290-1292

2021

Volltextzugriff (PDF)

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia

Journal of inherited metabolic disease, 2018-03, Vol.41 (2), p.197-208

2018

Volltextzugriff (PDF)

Quantitation of Fatty Acids in Serum/Plasma and Red Blood Cells by Gas Chromatography-Negative Chemical Ionization-Mass Spectrometry

Methods in molecular biology (Clifton, N.J.), 2022, Vol.2546, p.149

2022

Volltextzugriff (PDF)

The MEK kinase Ssk2p promotes actin cytoskeleton recovery after osmotic stress

Molecular biology of the cell, 2002-08, Vol.13 (8), p.2869-2880

2002

Volltextzugriff (PDF)

Quantitative analysis of urine acylglycines by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS): Reference intervals and disease specific patterns in individuals with organic acidemias and fatty acid oxidation disorders

Clinica chimica acta, 2021-12, Vol.523, p.285-289

2021

Volltextzugriff (PDF)

Actin recovery and bud emergence in osmotically stressed cells requires the conserved actin interacting mitogen-activated protein kinase kinase kinase Ssk2p/MTK1 and the scaffold protein Spa2p

Molecular biology of the cell, 2003-07, Vol.14 (7), p.3013-3026

2003

Volltextzugriff (PDF)

Persistent Nutritional Deficiency in Pancreatic-Insufficient Children and Adolescents with Cystic Fibrosis Despite Therapeutic Intervention

American journal of clinical pathology, 2021-10, Vol.156 (Supplement_1), p.S8-S8

2021

Volltextzugriff (PDF)

The nuclear magnetic resonance metabolic profile: Impact of fasting status

Clinical biochemistry, 2021-01, Vol.87, p.85-92

2021

Volltextzugriff (PDF)

Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders

Clinica chimica acta, 2023-03, Vol.542, p.117295-117295, Article 117295

2023

Volltextzugriff (PDF)

Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients

Clinica chimica acta, 2020-10, Vol.509, p.126-134

2020

Volltextzugriff (PDF)

Improvement of lipid and lipoprotein profiles in children and adolescents with cystic fibrosis on CFTR modulator therapy

Journal of cystic fibrosis, 2023-11, Vol.22 (6), p.1027-1035

2023

Volltextzugriff (PDF)

The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107128, Article 107128

2023

Volltextzugriff (PDF)

Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy

Scientific reports, 2019-12, Vol.9 (1), p.11371-11371

2019

Volltextzugriff (PDF)

1 – 25 von 54

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(51)
Mit Volltextzugriff
(52)

Publikationsform

Artikel
(53)
Berichte
(1)

Sprache

Englisch
(54)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Histone methyltransferase Smyd1 regulates mitochondrial energetics in the heart

Metabolic remodeling in moderate synchronous versus dyssynchronous pacing-induced heart failure: integrated metabolomics and proteomics study

Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing

Retrospective comparison of results for simultaneous orders for LDL particle count, apolipoprotein B, and LDL-C

Cystic fibrosis and fat malabsorption: Pathophysiology of the cystic fibrosis gastrointestinal tract and the impact of highly effective CFTR modulator therapy

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy

P367: The impact of modulator therapies on lipids and fatty acids profiles in children and adolescents with cystic fibrosis

P252: Development of a scoring system to define lysosomal diseases

P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

NMR Insights into Lipoprotein Particles: analyzing correlations with traditional lipid measurements

O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy

An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia

Quantitation of Fatty Acids in Serum/Plasma and Red Blood Cells by Gas Chromatography-Negative Chemical Ionization-Mass Spectrometry

The MEK kinase Ssk2p promotes actin cytoskeleton recovery after osmotic stress

Quantitative analysis of urine acylglycines by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS): Reference intervals and disease specific patterns in individuals with organic acidemias and fatty acid oxidation disorders

Actin recovery and bud emergence in osmotically stressed cells requires the conserved actin interacting mitogen-activated protein kinase kinase kinase Ssk2p/MTK1 and the scaffold protein Spa2p

Persistent Nutritional Deficiency in Pancreatic-Insufficient Children and Adolescents with Cystic Fibrosis Despite Therapeutic Intervention

The nuclear magnetic resonance metabolic profile: Impact of fasting status

Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders

Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients

Improvement of lipid and lipoprotein profiles in children and adolescents with cystic fibrosis on CFTR modulator therapy

The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease

Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy

Suchergebnisse filtern