A5052370546- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Biochemical and Molecular Research
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Retinoids in leukemia and cellular processes
- Amino Acid Enzymes and Metabolism
- RNA modifications and cancer
- Antioxidant Activity and Oxidative Stress
- Peptidase Inhibition and Analysis
- Metalloenzymes and iron-sulfur proteins
- Neonatal Health and Biochemistry
- Advanced MRI Techniques and Applications
- Genomics and Rare Diseases
- Estrogen and related hormone effects
- Cancer, Hypoxia, and Metabolism
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Muscle metabolism and nutrition
- Biotin and Related Studies
- Epigenetics and DNA Methylation
- Peroxisome Proliferator-Activated Receptors
- ATP Synthase and ATPases Research
- Metabolomics and Mass Spectrometry Studies
- Genetics and Neurodevelopmental Disorders
Hochschule Bonn-Rhein-Sieg
2015-2024
Universitätsmedizin Rostock
2024
University College Dublin
2021
University Medical Center Freiburg
2008-2020
University of Freiburg
2004-2020
University Children's Hospital Zurich
2012-2019
Boston Children's Hospital
2006-2014
University of Zurich
2014
Klinik und Poliklinik für Kinder- und Jugendmedizin
2005-2011
Universitätskinderklinik
2010
Abstract Isolated methylmalonic acidaemia (MMA) and propionic (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis management these disorders has been published for first time. The article received considerable attention, illustrating importance an expert panel to evaluate compile recommendations guide disease patient care. Since that time, growing body transplant outcomes in MMA PA patients use precursor free amino acid...
Abstract Background Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it one the most frequent organic acidurias, information on outcome affected individuals still limited. Study design/methods Clinical and data 55 patients with propionic from 16 European metabolic centers were evaluated retrospectively. 35 diagnosed selective screening while 20 identified newborn screening. Endocrine parameters bone age evaluated. In addition, IQ testing...
Renal proximal tubular cells constantly recycle nutrients to ensure minimal loss of vital substrates into the urine. Although most transport mechanisms have been discovered at molecular level, little is known about factors regulating these processes. Here, we show that mTORC1 and mTORC2 specifically synergistically regulate PTC endocytosis Using a conditional mouse genetic approach disable nonredundant subunits mTORC1, mTORC2, or both, showed mice lacking mTORC1/mTORC2 but not alone develop...
Research Article4 February 2010Open Access A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival Katharina Rauschenberger Institute Human Genetics, Heidelberg University, Heidelberg, Germany Search more papers by this author Katja Schöler Structural Genomics Consortium, University Oxford, UK Jörn Oliver Sass Laboratory Clinical Biochemistry Metabolism, Freiburg Children's Hospital, Freiburg, Sven Sauer Department...
Substitution therapies for orphan genetic diseases, including enzyme replacement methods, are frequently hampered by the limited availability of required therapeutic substance. We describe isolation a pterin intermediate from bacteria that was successfully used therapy hitherto incurable and lethal disease. Molybdenum cofactor (Moco) deficiency is pleiotropic disorder characterized loss molybdenum-dependent enzymes sulphite oxidase, xanthine oxidoreductase aldehyde oxidase due to mutations...
Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on outcome individuals with PA rather limited. We present data 49 patients PA, which were gathered from 18 metabolic centers throughout Central Europe occasion an international workshop. All identified by selective screening, and 86% them classified as having early-onset owing to their presentation clinical symptoms within first 90 days life. Mortality rate was third, details treatment surviving are...
Clinical presentation and disease severity in disorders of purine pyrimidine metabolism vary considerably. We present a method that allows comprehensive, sensitive, specific diagnosis the entire spectrum abnormalities 1 analytical run.We used reversed-phase HPLC electrospray ionization tandem mass spectrometry to investigate 24 metabolites urine samples from healthy persons patients with confirmed diagnoses inherited metabolic disorders. Urine were filtered diluted creatinine concentration...
L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs subcortical leukoencephalopathy with basal ganglia dentate nuclei involvement. Mutations in the gene L2HGDH (C14orf160/duranin/) have been identified as causative for L-2-HGA. A feature disproportionally associated L-2-HGA development of malignant brain tumors. In our cohort 40 patients L-2-HGA, two developed...
Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can lead to mental motor retardation convulsions. DPD also known cause a potentially lethal toxicity following administration antineoplastic agent 5-fluorouracil. In ongoing study 72 deficient patients, we analysed molecular background 5 patients in more detail whom initial sequence analysis did not reveal pathogenic mutations. three 13.8 kb...