Jana Hauke
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View article: Variable glucagon metabolic actions in diverse mouse models of obesity and type 2 diabetes
Variable glucagon metabolic actions in diverse mouse models of obesity and type 2 diabetes Open
View article: Phosphoproteomics-directed manipulation reveals SEC22B as a hepatocellular signaling node governing metabolic actions of glucagon
Phosphoproteomics-directed manipulation reveals SEC22B as a hepatocellular signaling node governing metabolic actions of glucagon Open
View article: A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry Open
Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset of symptoms. A high-throughput nucleic aci…
View article: Glucose and fatty acids catabolism during in vitro decidualization of human endometrial stromal cells
Glucose and fatty acids catabolism during in vitro decidualization of human endometrial stromal cells Open
View article: mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model
mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model Open
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available. Patients must adhere to a s…
View article: Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study
Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study Open
View article: Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation Open
Monitoring phenylalanine (Phe) concentrations is critical for the management of phenylketonuria (PKU). This can be done in dried blood spots (DBS) or in EDTA plasma derived from capillary or venous blood. Different techniques are used to m…
View article: Trimethylamine-N-Oxide Levels Are Similar in Asymptomatic vs. Symptomatic Cerebrovascular Atherosclerosis
Trimethylamine-N-Oxide Levels Are Similar in Asymptomatic vs. Symptomatic Cerebrovascular Atherosclerosis Open
Introduction: Trimethylamine-N-oxide (TMAO) is correlated with atherosclerosis and vascular diseases such as coronary heart disease and ischemic stroke. The aim of the study was to investigate whether TMAO levels are different in symptomat…
View article: Trimethylamine N-oxide in atrial fibrillation progression
Trimethylamine N-oxide in atrial fibrillation progression Open
View article: Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation Open
A LC-MS/MS assay allowing the simultaneous, sensitive and reliable diagnosis of an extended range of purine and pyrimidine disorders has been developed. The validated method has successfully been tested using ERNDIM Diagnostic Proficiency …