A5062310823- Metabolism and Genetic Disorders
- Biochemical and Molecular Research
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- Neurological diseases and metabolism
- Folate and B Vitamins Research
- Diet and metabolism studies
- Neurogenetic and Muscular Disorders Research
- Pneumocystis jirovecii pneumonia detection and treatment
- Glycosylation and Glycoproteins Research
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Botulinum Toxin and Related Neurological Disorders
- Epilepsy research and treatment
- Neurological and metabolic disorders
- Cytomegalovirus and herpesvirus research
- Cellular transport and secretion
- Immunodeficiency and Autoimmune Disorders
- Ion channel regulation and function
- Adenosine and Purinergic Signaling
Heidelberg University
2016-2025
University Hospital Heidelberg
2016-2025
Zentrum für Kinderheilkunde
2013-2020
University of Lübeck
2014
Center for Human Genetics
2014
Heinrich Heine University Düsseldorf
2004-2013
Düsseldorf University Hospital
2003-2013
Boston Children's Hospital
2011-2012
Universitätskinderklinik
2006-2010
Temple Street Children's University Hospital
2008
Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation type I interferon (IFN) signalling, we identified a cohort individuals heterozygous mutations in PTPN1, encoding protein-tyrosine phosphatase 1B (PTP1B). We aimed to describe clinical phenotype and molecular cellular pathology this new disease. In case series, collected neuroradiological data through collaboration paediatric neurology genetics colleagues across Europe (Czechia, France,...
dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of transporter. We describe a cohort children with mutations in gene encoding (SLC6A3) aim to improve clinical and molecular characterisation, reduce diagnostic delay misdiagnosis, provide insights into pathophysiological mechanisms.11 biochemical profile suggestive were enrolled from seven paediatric neurology centres UK, Germany, USA February, 2009, studied until June, 2010....
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are characteristically induced by acute encephalopathic crises during a finite period brain development (age 3–36 months). The frequency injury is significantly less in patients diagnosed as asymptomatic newborns newborn screening. Most previous studies have focused on the onset mechanism injury, whereas little known about neuroradiological...
Abstract Objective: To evaluate the effect of treatment according to current evidence‐based recommendations on neurological outcome patients with glutaric aciduria type I (GA‐I). Methods: Fifty‐two identified by newborn screening (NBS) in Germany from 1999 2009 were followed prospectively. Neurological was assessed occurrence an acute encephalopathic crisis and severity a movement disorder (MD) predominant dystonia superimposing axial hypotonia. Outcome evaluated relation therapy...
Tyrosine hydroxylase (TH) is the key enzyme in biosynthesis of catecholamines dopamine, epinephrine, and norepinephrine. Recessively inherited deficiency TH was recently identified incorporated into recent concepts genetic dystonias as cause recessive Dopa-responsive dystonia or Segawa's syndrome analogy to dominantly GTP cyclohydrolase I deficiency. We report four patients with two Patients suffer from progressive infantile encephalopathy dominated by motor retardation similar a primary...
Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed that adjunct treatment a lysine-restricted diet is safe, results in partial normalization lysine intermediates body fluids, and may have beneficial effects on control psychomotor development.In analogy the NICE guideline process, international PDE Consortium,...
Patients carrying pathogenic variants in GNAO1 often present with early-onset central hypotonia and global developmental delay, or without epilepsy. As the disorder progresses, a complex hypertonic hyperkinetic movement is common phenotype. A genotype-phenotype correlation has not yet been described there are no evidence-based therapeutic recommendations.To improve understanding of clinical course pathophysiology this ultra-rare disorder, we built up registry for patients Germany. In...
Abstract The objective of the study is to evaluate evolving phenotype and genetic spectrum patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long‐term follow‐up. Longitudinal clinical biochemical data 22 pediatric 9 adult individuals SSADHD from patient registry International Working Group on Neurotransmitter related Disorders (iNTD) were studied silico analyses, pathogenicity scores molecular modeling ALDH5A1 variants. Leading initial symptoms, onset infancy,...
beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting cleavage N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. In this study, we report elucidation genetic basis underlying a beta-ureidopropionase in four patients presenting with neurological abnormalities strongly elevated levels acid plasma, cerebrospinal fluid urine. No activity could be detected liver biopsy obtained from one patients, which reflected complete absence...
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement and global developmental delay. This study presents the results first standardized deep phenotyping approach describes clinical biochemical presentation at disease onset as well diagnostic approaches 275 patients from registry International Working Group on Neurotransmitter related Disorders. The reveal an increased rate prematurity, a high risk for being small gestational age...
A 1.5-year-old boy with macrocephaly due to a Dandy-Walker malformation presented progressive hydrocephalus, extensive muscular hypotonia, transient cholestatic syndrome, coagulation abnormalities and elevated creatine kinase indicating myopathy. Diagnostic work-up indicated congenital disorder of glycosylation (CDG, formerly carbohydrate deficient glycoprotein syndrome). The serum transferrin pattern obtained by automated isoelectric focusing (IEF) showed an hitherto unreported strongly...
Sandifer syndrome, named after the neurologist Paul Sandifer, was first reported by M. Kinsbourne in 1962 who noticed a disorder of upper gastrointestinal tract with neurological manifestations occurring children and adolescents. syndrome is combination gastro-oesophageal reflux disease spastic torticollis dystonic body movements or without hiatal hernia. It hypothesised that positioning head provides relief from abdominal discomfort caused acid reflux. The true pathophysiological mechanisms...
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by in the basal ganglia. Recently, mutations CoA synthase ( COASY ) have been identified as cause novel NBIA subtype (COASY Protein‐Associated Neurodegeneration, CoPAN) two patients dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing...