Research Topics
| Nils JanzenSummaryAffiliation: Screening-Labor Hannover Country: Germany Publications
| Collaborators
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Detail Information
Publications
UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spotsNils Janzen
Screening Labor Hannover, Hannover, Germany Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany Department of Neuropediatrics, Children s Hospital, Ruhr University of Bochum, Bochum, Germany Electronic address
Clin Chim Acta 421:41-5. 2013..Metabolic screening including newborn screening requires further differentiation of C5-acylcarnitines in order to separate different metabolic disorders and to detect interferents like pivalic acid originating from antibiotics...
Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometryN Janzen
Screening Labor Hannover, D 30952 Ronnenberg, Germany
J Clin Endocrinol Metab 92:2581-9. 2007....
Fast and direct quantification of adrenal steroids by tandem mass spectrometry in serum and dried blood spotsNils Janzen
Screening Laboratory Hannover, c o Box 91 10 09, Hannover D 30430, Germany
J Chromatogr B Analyt Technol Biomed Life Sci 861:117-22. 2008..Steroids were measured in MRM mode with electrospray interface (positive ion mode). Validation showed excellent precision, sensitivity, recovery and linearity with coefficients of determination r2>0.992...
Energy metabolism in umbilical endothelial cells from preterm and term neonatesSabine Illsinger
Clinic for Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
J Perinat Med 39:587-93. 2011..The aim of this study was to investigate the impact of gestational age on energy metabolism in human umbilical vein endothelial cells (HUVECs) of preterm and term neonates...
Cyclosporine A: impact on mitochondrial function in endothelial cellsSabine Illsinger
Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
Clin Transplant 25:584-93. 2011..Interference of CSA with mitochondrial function may be responsible for these side effects...
Effect of tacrolimus on energy metabolism in human umbilical endothelial cellsSabine Illsinger
Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Germany
Ann Transplant 16:68-75. 2011..Tacrolimus has a wide spectrum of adverse effects, including neurotoxic and vascular events. Vascular dysfunction due to interference of tacrolimus with mitochondrial function in endothelial cells may contribute to these adverse reactions...
EDTA in dried blood spots leads to false results in neonatal endocrinologic screeningUte Holtkamp
Screening Labor Hannover, Hannover, Germany
Clin Chem 54:602-5. 2008..Occasionally these samples are contaminated with EDTA, which is often used for anticoagulation. EDTA may interfere with newborn screening tests based on lanthanide fluorescence and thus lead to false-negative or false-positive results...
Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testingNils Janzen
Department of Neuropediatrics, Children s Hospital, Ruhr University of Bochum, Bochum, Germany
Horm Res Paediatr 77:195-9. 2012..We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing...
Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography-tandem mass spectrometryNils Janzen
Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
Steroids 76:1437-42. 2011..The method is not influenced by cross reactions as found on immunoassay. Analysis of dried blood spots shows that this method is sensitive and fast enough to allow rapid analysis and can therefore improve the newborn screening program...
Early cataract formation due to galactokinase deficiency: impact of newborn screeningNils Janzen
Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
Arch Med Res 42:608-12. 2011..The aim of this retrospective study was to explore whether GALK-deficiency meets the criteria for neonatal mass screening programs...
Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetoneJohannes Sander
Screening Laboratory, Hannover, Germany
Clin Chem 52:482-7. 2006..We present our experience with a newly described method for succinylacetone quantification in routine newborn screening...
Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC)Johannes Sander
Screening Laboratory Hannover, Hannover, Germany
Clin Chim Acta 412:134-8. 2011..We developed a blood spot test to facilitate collection and transport of samples. Furthermore, the test material can be used for determination of other parameters like tyrosine and succinylacetone...
Neonatal screening for defects of the mitochondrial trifunctional proteinJohannes Sander
Screening Laboratory, Hannover, Postfach 911009, D 30430 Hannover, Germany
Mol Genet Metab 85:108-14. 2005..Finally, extension of analysis to MTP deficiencies is achieved without additional costs for screening laboratories already using TMS...
Neonatal screening for citrullinaemiaJohannes Sander
Screeninglabor, 30430 Hannover, Germany
Eur J Pediatr 162:417-20. 2003..CONCLUSION: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms...
A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MSM Peter
Screening Labor Hannover, Hannover, Germany
Horm Res 69:253-6. 2008..The objective is to show that the diagnosis of 11beta-hydroxylase deficiency can be done using a dried blood spot from newborn screening...
Preeclampsia and HELLP syndrome: impaired mitochondrial function in umbilical endothelial cellsSabine Illsinger
Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
Reprod Sci 17:219-26. 2010..Impaired mitochondrial function in HUVEC is associated with PE/HELLP syndrome and may be involved in the pathophysiology of these diseases...
Macro-AST: misleading finding in an adolescent with MCAD-deficiencyAnibh M Das
Department of Paediatrics, Hannover Medical School, Hannover, Germany
BMC Gastroenterol 12:119. 2012..In anabolism, neither clinical symptoms nor biochemical signs of organ dysfunction occur...
