A5035270139- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Liver Disease Diagnosis and Treatment
- Carbohydrate Chemistry and Synthesis
- Pancreatic function and diabetes
- Drug Transport and Resistance Mechanisms
- Corneal surgery and disorders
- Liver Disease and Transplantation
- Glycosylation and Glycoproteins Research
- Trypanosoma species research and implications
- Diet and metabolism studies
- Studies on Chitinases and Chitosanases
- Glycogen Storage Diseases and Myoclonus
- Neurological and metabolic disorders
- Cellular transport and secretion
- Neonatal Health and Biochemistry
- Pediatric Hepatobiliary Diseases and Treatments
- Mitochondrial Function and Pathology
- Connective tissue disorders research
- Genetic Neurodegenerative Diseases
- Gallbladder and Bile Duct Disorders
- Dermatological and Skeletal Disorders
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Liver physiology and pathology
Düsseldorf University Hospital
2016-2025
Heinrich Heine University Düsseldorf
2016-2025
Charles Darwin University
2025
Queen's University Belfast
2024
James Cook University
2020
Hochschule Düsseldorf University of Applied Sciences
2018
Walter de Gruyter (Germany)
2018
University Medical Center Freiburg
1990-2015
Danish Agriculture and Food Council
2015
St. Franziskus Hospital
2006-2013
Recent in vivo studies using proton magnetic resonance (1H-MR) spectroscopy showed low levels of myo-inositol the brain hepatic encephalopathy; pathogenetic relevance this observation is unclear.Myo-inositol and glutamine were studied by 1H-MR patients with hypo-osmolarity encephalopathy.A patient severe plasma (222 mOsm/L) had almost undetectable signals for glutamine/glutamate brain. Both reappeared after normalization osmolarity, suggesting that both released as organic osmolytes from A...
We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations Gaucher disease type 1 (GD1).The International Collaborative Group (ICGG) Registry identified GD1 patients treated with who had dose clinical data at first infusion after 10 years follow-up. Data for hemoglobin, platelet count, organ volumes, pain, crisis were analyzed. Tests null hypothesis (no change...
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of condition and, as consequence, patients show modified phenotype which reflects their disease are refractory to treatment. More generally, it increasingly recognised information how patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] critical any comprehensive evaluation A new set management goals for GD1 in both trends reflected...
Abstract Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting deficiency mitochondrial glutaryl‐CoA dehydrogenase (GCDH) and, consequently, accumulation glutaric acid, 3‐hydroxyglutaric glutaconic acid and glutarylcarnitine detectable gas chromatography/mass spectrometry (organic acids) tandem mass (acylcarnitines). Depending on residual activity, biochemical high low...
Heterotrimeric G proteins of the G(i) class have been implicated in signaling pathways regulating growth and metabolism under physiological pathophysiological conditions. Knockout mice carrying inactivating mutations both widely expressed Galpha(i) genes, Galpha(i2) Galpha(i3), demonstrate shared as well gene-specific functions. The presence a single active allele Galpha(i3) is sufficient for embryonic development, whereas at least one required extrauterine life. Mice lacking are massively...
To determine whether enzyme therapy with imiglucerase/alglucerase demonstrates dose-response relationships doses and disease parameters used in routine clinical practice for Gaucher type 1 patients.Analyses included all patients on intact spleens the large observational database of International Collaborative Group Registry. Propensity scoring was to match between dose groups categorized as A (5 U <29 U/kg/2 weeks), B (29 <48 C (48 <75 weeks). Hemoglobin concentration, platelet count,...
Exposure of isolated single-pass-perfused rat liver to hypo-osmotic media resulted in cell swelling and an inhibition release branched-chain amino acids. Similarly, inhibited [3H]leucine from perfused livers rats which proteins were prelabelled vivo by intraperitoneal injection L-[4,5-3H]leucine 16-20 h before the experiment. The effects on fully reversible. [3H]Leucine was also when induced addition glutamine (0.5-2 mM). There a close relationship between degree swelling, regardless whether...
Inhibition of autophagic proteolysis by hypoosmotic or amino acid-induced hepatocyte swelling requires osmosignaling toward p38MAPK; however, the upstream osmosensing and signaling events are unknown. These were studied in intact perfused rat liver with a preserved situ environment hepatocytes. It was found that led to an activation Src (but not FAK), Erks, p38MAPK, which prevented integrin inhibitory hexapeptide GRGDSP, but its inactive analogue GRGESP. inhibition PP-2 MAP kinase...
Gaucher disease type I, the most common lysosomal storage disorder, is associated with immunoglobulin abnormalities. We studied prevalence, risk factors, pathogenesis, and effect of enzyme relation therapy (ERT) on gammopathies in an adult I cohort (N = 63) related results to a review currently available literature. Polyclonal monoclonal gammopathy undetermined significance (MGUS) our GD were found 41% 19% patients. These are similar data from literature correspond increased multiple myeloma...
Hepatic proteolysis is inhibited by insulin, amino acids and hypoosmotic cell swelling stimulated glucagon. These effectors simultaneously modulate volume in the intact liver, as shown measurements of intracellular water space. A close relationship exists between effect on accompanying change, regardless whether hepatic was modified glucagon, cyclic AMP, glutamine, glycine, barium exposure. It suggested that changes exerted hormones play a crucial role regulation proteolysis.
We estimated life expectancy at birth for Gaucher disease type 1 (GD1) patients by comparing survival data from GD1 enrolled in ICGG Registry to the U.S. population using standard table methods. 2,876 had 102 reported deaths 13,509 person-years of follow-up. Estimated was 68 y, compared with 77 y reference population; splenectomized patients, 64 y; nonsplenectomized, 72 y. Causes death 63/102 were malignancy (17/63), cardiovascular (11/63), and cerebrovascular (8/63). approximately 9 less...