Publications by authors named "U Teufel"
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane.
Case Presentation: We report on two siblings of Romanian-Vietnamese ancestry with citrin deficiency.
Introduction: Respiratory instability is frequently observed during pediatric procedural sedation. The aim of this trial was to estimate the impact of high-flow nasal cannula (HFNC) therapy on respiratory stability during sedation for upper gastrointestinal tract endoscopy in children.
Methods: Prospective randomized controlled non-blinded single-center pilot trial.
Background: Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment and poor outcome. The major aim of this study was to identify specific initial symptoms or signs to clinically distinguish hyperammonemic encephalopathy in neonates from neonatal sepsis in order to identify affected individuals with UCD and to start metabolic therapy without delay. Furthermore, we evaluated the impact of diagnostic delay, peak plasma ammonium (NH) concentration, mode of emergency treatment and transfer to a tertiary referral center on the outcome.
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- The study investigates urinary copper excretion and serum copper levels in patients with Wilson disease over a long period, highlighting inconsistencies in results.
- Data from 321 patients were reviewed to assess the effectiveness of treatments like D-penicillamine and zinc over time, measuring copper levels at various intervals.
- Findings suggest that while urinary copper excretion decreases with treatment, the variability in results means these measurements are not ideal for monitoring therapy effectiveness, although urinary levels are more reliable than non-caeruloplasmin associated copper concentrations.
Changes in liver structure are an important issue in chronic hepatopathies. Until the end of the 20 century, these changes could only be determined by histological analyses of a liver specimen obtained biopsy. The well-known limitations of this technique (.
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