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List of works by Jörgen Bierau

A comparative study of inosine triphosphatase activity in fresh erythrocytes and dried blood spots

scientific article published on 03 May 2009

A novel multiparameter flow cytometric assay for inosine triphosphatase expression analysis in leukocytes

scientific article published on 12 April 2012

Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.

scientific article published on 28 September 2011

An HPLC-based assay of adenylosuccinate lyase in erythrocytes

scientific article published on 01 November 2011

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

scientific article published on 19 March 2009

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

scientific article published on 26 November 2018

Associations of plasma uric acid and purine metabolites with blood pressure in children: the KOALA Birth Cohort Study.

scientific article published on May 2017

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.

scientific article published on 12 February 2010

Body Position Modulates Gastric Emptying and Affects the Post-Prandial Rise in Plasma Amino Acid Concentrations Following Protein Ingestion in Humans

scientific article published on 13 April 2016

Both basal and post-prandial muscle protein synthesis rates, following the ingestion of a leucine-enriched whey protein supplement, are not impaired in sarcopenic older males.

scientific article

CAD mutations and uridine-responsive epileptic encephalopathy.

scientific article published on 21 December 2016

Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model

scientific article published on 25 May 2017

Cyclopentenyl cytosine primes SK-N-BE(2)c neuroblastoma cells for cytarabine toxicity

scientific article published on January 2003

Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma

scientific article published on 5 November 2005

Defective postreperfusion metabolic recovery directly associates with incident delayed graft function.

scientific article

Determination of the deoxycytidine kinase activity in cell homogenates with a non-radiochemical assay using reversed-phase high performance liquid chromatography; Identification of a novel metabolite of 2-chlorodeoxyadenosine

scientific article published on June 2004

Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography

scientific article published on 30 March 2010

Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV.

scientific article published on 12 January 2018

Erythrocyte inosine triphosphatase activity is decreased in HIV-seropositive individuals

scientific article

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time

scientific article published on 31 October 2018

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

scientific article published on 21 August 2020

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

article

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

scientific article published on 12 February 2018

Food ingestion in an upright sitting position increases postprandial amino acid availability when compared with food ingestion in a lying down position.

scientific article published on 17 February 2017

Impaired fertility and motor function in a zebrafish model for classic galactosemia

scientific article published on 14 September 2017

Increasing Insulin Availability Does Not Augment Postprandial Muscle Protein Synthesis Rates in Healthy Young and Older Men.

scientific article published on 19 July 2016

Ingestion of Wheat Protein Increases In Vivo Muscle Protein Synthesis Rates in Healthy Older Men in a Randomized Trial.

scientific article published on 20 July 2016

Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy.

scientific article

Inosine triphosphate pyrophosphohydrolase activity: more accurate predictor for ribavirin-induced anemia in hepatitis C infected patients than ITPA genotype

scientific article published on 13 May 2015

Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity

article

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

scientific article published on 26 April 2017

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish

scientific article published on 22 May 2020

Nutrients required for phospholipid synthesis are lower in blood and cerebrospinal fluid in mild cognitive impairment and Alzheimer's disease dementia

scientific article

Persistent metabolic changes in HIV-infected patients during the first year of combination antiretroviral therapy

scientific article published in Scientific Reports

Pharmacogenetic significance of inosine triphosphatase

scientific article published on September 2007

Post-Prandial Protein Handling: You Are What You Just Ate

scientific article published on 10 November 2015

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion ⬇️

scientific article published on 23 June 2012

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

scientific article published on 30 August 2017

Protein content and amino acid composition of commercially available plant-based protein isolates

scientific article published in December 2018

Recessive ITPA mutations cause an early infantile encephalopathy

scientific article published on 29 July 2015

Reduced renal plasma clearance does not explain increased plasma asymmetric dimethylarginine in hypertensive subjects with mild to moderate renal insufficiency

scientific article published on 2 May 2012

Relevance of pharmacogenetic aspects of mercaptopurine metabolism in the treatment of interstitial lung disease

scientific article published on September 2007

Results of an explorative clinical evaluation suggest immediate and persistent post-reperfusion metabolic paralysis drives kidney ischemia reperfusion injury

scientific article published on 08 August 2020

Retinoic acid reduces the cytotoxicity of cyclopentenyl cytosine in neuroblastoma cells

scientific article published in September 2002

Serotonergic, noradrenergic and dopaminergic markers are related to cognitive function in adults with 22q11 deletion syndrome

scientific article published on 8 April 2014

The effect of ITPA polymorphisms on the enzyme kinetic properties of human erythrocyte inosine triphosphatase toward its substrates ITP and 6-Thio-ITP

scientific article published on 01 November 2011

The effect of prolonged dietary nitrate supplementation on atherosclerosis development

article

The hypoxanthine-xanthine oxidase axis is not involved in the initial phase of clinical transplantation-related ischemia-reperfusion injury

scientific article published on 28 December 2016

Therapeutic drug monitoring of thiopurine metabolites in adult thiopurine tolerant IBD patients on maintenance therapy.

scientific article published on 10 January 2012

Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias

scientific article published on 25 January 2018

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