A5103196641- Hemoglobinopathies and Related Disorders
- Metabolism and Genetic Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Neonatal Health and Biochemistry
- Blood disorders and treatments
- Biotin and Related Studies
- Genomic variations and chromosomal abnormalities
- Pesticide Residue Analysis and Safety
- Gut microbiota and health
- Metabolomics and Mass Spectrometry Studies
- Erythrocyte Function and Pathophysiology
- Thyroid Disorders and Treatments
- Tracheal and airway disorders
- Immunodeficiency and Autoimmune Disorders
- Biochemical Acid Research Studies
- Biochemical and Molecular Research
- Neurogenetic and Muscular Disorders Research
- Urinary and Genital Oncology Studies
- Reproductive tract infections research
- Folate and B Vitamins Research
- Analytical Chemistry and Chromatography
- Polyamine Metabolism and Applications
- Mitochondrial Function and Pathology
- Prenatal Screening and Diagnostics
Charité - Universitätsmedizin Berlin
2007-2024
Federal Institute for Risk Assessment
2003
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures has contributed a reduction in childhood mortality from SCD. Policies methodologies NBS vary different countries, this might have consequences the quality clinical outcomes across Europe. A two-day Pan-European consensus conference was held Berlin April 2017 order appraise current status...
A method was developed for screening crops a range of pesticide residues by liquid chromatography/tandem mass spectrometry (LC/MS/MS). complete set LC, electrospray ionization (ESI), and tandem MS acquisition parameters established the determination 108 analytes; these were used simultaneous 98 analytes in positive ESI mode 10 an additional MS/MS negative mode. The entire procedure involves extraction with methanol-water partition into dichloromethane. utility is demonstrated analysis 5...
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western and Brandenburg, collaboration with two centers Warsaw, a partnership field newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly combined (SCID), was initiated. SCID, but also some other PID, is group disorders characterized by absence T and/or B NK cells. Affected infants are susceptible to life-threatening infections, early detection gives chance effective treatment. The...
ABSTRACT Chlamydiaceae are obligate intracellular bacterial pathogens that strictly depend on host metabolites, such as nucleotides, lipids, and amino acids. Depletion of acids in cell culture media results abnormal chlamydial development vitro. Surprisingly, enrichment certain also retards growth. Our experiments revealed the antichlamydial effects largely independent changes transcriptome or proteome major signal transduction pathway modulated by acids, mTOR (mammalian target rapamycin)...
Sickle cell disease (SCD) does not occur in the indigenous German population, but with increasing number of immigrants from countries at high risk for hemoglobinopathies, question emerges whether or a newborn screening program (NBS) SCD should be initiated Germany anyhow. We have recently shown that Berlin, city very large immigrant incidence is considerable, our findings are insufficient to make decision country as whole. In this paper we will show body epidemiological data can generated...
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial β-oxidation. Confirmation diagnostics after newborn screening (NBS) can be performed either by enzyme testing and/or sequencing ACADM gene. Here, we report results from in lymphocytes with gene variants molecular analysis and initial acylcarnitine concentrations NBS sample. From April 2013 to August 2019, 388 individuals characteristic profiles suggestive MCADD octanoyl-CoA-oxidation was...
Newborn screening is an important public health measure of secondary prevention. With the increasing number target conditions, there a growing demand to optimize laboratory processes save patient material and work cost-effectively. Here, we report adaption commercially available SpotOn Clinical Diagnostics tandem mass spectrometry test kit detect hemoglobin fragments as well substrate-product pairs biotinidase porphobilinogen synthase at once. The presence specific peptides enzyme activities...